Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413819C= , CM000682.2:g.44413819C=	GRCh38
NC_000020.10:g.43042459C= , CM000682.1:g.43042459C=	GRCh37
NC_000020.9:g.42475873C=	NCBI36
NG_009818.1:g.63019C= , LRG_483:g.63019C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.426+19C= MANE Select	ENSP00000315180.4:n.426+19C=
ENST00000316099.10:c.492+19C=	ENSP00000312987.3:n.492+19C=
ENST00000619550.5:c.466+19C=
ENST00000683148.1:n.468+19C=
ENST00000683657.1:n.1616+19C=
ENST00000316099.9:c.492+19C=	ENSP00000312987.3:n.492+19C=
ENST00000316099.8:c.492+19C=	ENSP00000312987.3:n.492+19C=
ENST00000316673.8:c.426+19C=	ENSP00000315180.4:n.426+19C=
ENST00000372920.1:c.*259+19C=	ENSP00000362011.1:n.*259+19C=
ENST00000415691.2:c.492+19C=	ENSP00000412111.1:n.492+19C=
ENST00000443598.6:c.492+19C=	ENSP00000410911.2:n.492+19C=
ENST00000457232.5:c.426+19C=	ENSP00000396216.1:n.426+19C=
ENST00000609795.5:c.426+19C=	ENSP00000476609.1:n.426+19C=
ENST00000619550.4:c.417+19C=	ENSP00000481331.1:n.417+19C=
NM_000457.4:c.492+19C= , LRG_483t2:c.492+19C=	NP_000448.3:n.492+19C=
NM_001030003.2:c.426+19C=	NP_001025174.1:n.426+19C=
NM_001030004.2:c.426+19C=	NP_001025175.1:n.426+19C=
NM_001258355.1:c.471+19C=	NP_001245284.1:n.471+19C=
NM_001287182.1:c.417+19C=	NP_001274111.1:n.417+19C=
NM_001287183.1:c.417+19C= , LRG_483t3:c.417+19C=	NP_001274112.1:n.417+19C=
NM_001287184.1:c.417+19C=	NP_001274113.1:n.417+19C=
NM_175914.4:c.426+19C= , LRG_483t1:c.426+19C=	NP_787110.2:n.426+19C=
NM_178849.2:c.492+19C=	NP_849180.1:n.492+19C=
NM_178850.2:c.492+19C=	NP_849181.1:n.492+19C=
XM_005260407.2:c.609+19C=	XP_005260464.1:n.609+19C=
XM_011528797.1:c.540+19C=	XP_011527099.1:n.540+19C=
XM_011528798.1:c.540+19C=	XP_011527100.1:n.540+19C=
XM_005260407.4:c.609+19C=	XP_005260464.1:n.609+19C=
NM_001030003.3:c.426+19C=	NP_001025174.1:n.426+19C=
NM_001030004.3:c.426+19C=	NP_001025175.1:n.426+19C=
NM_001258355.2:c.471+19C=	NP_001245284.1:n.471+19C=
NM_001287182.2:c.417+19C=	NP_001274111.1:n.417+19C=
NM_001287184.2:c.417+19C=	NP_001274113.1:n.417+19C=
NM_178849.3:c.492+19C=	NP_849180.1:n.492+19C=
NM_178850.3:c.492+19C=	NP_849181.1:n.492+19C=
NM_000457.5:c.492+19C=	NP_000448.3:n.492+19C=
NM_000457.6:c.492+19C=	NP_000448.3:n.492+19C=
NM_001287183.2:c.417+19C=	NP_001274112.1:n.417+19C=
NM_175914.5:c.426+19C= MANE Select	NP_787110.2:n.426+19C=