Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413752C= , CM000682.2:g.44413752C=	GRCh38
NC_000020.10:g.43042392C= , CM000682.1:g.43042392C=	GRCh37
NC_000020.9:g.42475806C=	NCBI36
NG_009818.1:g.62952C= , LRG_483:g.62952C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.378C= MANE Select	ENSP00000315180.4:p.Ser126=
ENST00000316099.10:c.444C=	ENSP00000312987.3:p.Ser148=
ENST00000619550.5:c.418C=
ENST00000683148.1:n.420C=
ENST00000683657.1:n.1568C=
ENST00000316099.9:c.444C=	ENSP00000312987.3:p.Ser148=
ENST00000316099.8:c.444C=	ENSP00000312987.3:p.Ser148=
ENST00000316673.8:c.378C=	ENSP00000315180.4:p.Ser126=
ENST00000372920.1:c.*211C=	ENSP00000362011.1:n.*211C=
ENST00000415691.2:c.444C=	ENSP00000412111.1:p.Ser148=
ENST00000443598.6:c.444C=	ENSP00000410911.2:p.Ser148=
ENST00000457232.5:c.378C=	ENSP00000396216.1:p.Ser126=
ENST00000609795.5:c.378C=	ENSP00000476609.1:p.Ser126=
ENST00000619550.4:c.369C=	ENSP00000481331.1:p.Ser123=
NM_000457.4:c.444C= , LRG_483t2:c.444C=	NP_000448.3:p.Ser148=
NM_001030003.2:c.378C=	NP_001025174.1:p.Ser126=
NM_001030004.2:c.378C=	NP_001025175.1:p.Ser126=
NM_001258355.1:c.423C=	NP_001245284.1:p.Ser141=
NM_001287182.1:c.369C=	NP_001274111.1:p.Ser123=
NM_001287183.1:c.369C= , LRG_483t3:c.369C=	NP_001274112.1:p.Ser123=
NM_001287184.1:c.369C=	NP_001274113.1:p.Ser123=
NM_175914.4:c.378C= , LRG_483t1:c.378C=	NP_787110.2:p.Ser126=
NM_178849.2:c.444C=	NP_849180.1:p.Ser148=
NM_178850.2:c.444C=	NP_849181.1:p.Ser148=
XM_005260407.2:c.561C=	XP_005260464.1:p.Ser187=
XM_011528797.1:c.492C=	XP_011527099.1:p.Ser164=
XM_011528798.1:c.492C=	XP_011527100.1:p.Ser164=
XM_005260407.4:c.561C=	XP_005260464.1:p.Ser187=
NM_001030003.3:c.378C=	NP_001025174.1:p.Ser126=
NM_001030004.3:c.378C=	NP_001025175.1:p.Ser126=
NM_001258355.2:c.423C=	NP_001245284.1:p.Ser141=
NM_001287182.2:c.369C=	NP_001274111.1:p.Ser123=
NM_001287184.2:c.369C=	NP_001274113.1:p.Ser123=
NM_178849.3:c.444C=	NP_849180.1:p.Ser148=
NM_178850.3:c.444C=	NP_849181.1:p.Ser148=
NM_000457.5:c.444C=	NP_000448.3:p.Ser148=
NM_000457.6:c.444C=	NP_000448.3:p.Ser148=
NM_001287183.2:c.369C=	NP_001274112.1:p.Ser123=
NM_175914.5:c.378C= MANE Select	NP_787110.2:p.Ser126=