Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145744G= , CM000669.2:g.44145744G=	GRCh38
NC_000007.13:g.44185343G= , CM000669.1:g.44185343G=	GRCh37
NC_000007.12:g.44151868G=	NCBI36
NG_008847.1:g.48680C=
NG_008847.2:g.57427C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1018-14C=	ENSP00000379142.4:n.*1018-14C=
ENST00000616242.5:c.*140-14C=	ENSP00000482149.2:n.*140-14C=
ENST00000683378.1:n.246-14C=
ENST00000336642.9:c.54-14C=	ENSP00000338009.5:n.54-14C=
ENST00000345378.7:c.1023-14C=	ENSP00000223366.2:n.1023-14C=
ENST00000403799.8:c.1020-14C= MANE Select	ENSP00000384247.3:n.1020-14C=
ENST00000671824.1:c.1083-14C=	ENSP00000500264.1:n.1083-14C=
ENST00000672743.1:n.32-14C=
ENST00000673284.1:c.1020-14C=	ENSP00000499852.1:n.1020-14C=
ENST00000336642.8:c.72-14C=	ENSP00000338009.4:n.72-14C=
ENST00000345378.6:c.1023-14C=	ENSP00000223366.2:n.1023-14C=
ENST00000395796.7:c.1017-14C=	ENSP00000379142.3:n.1017-14C=
ENST00000403799.7:c.1020-14C=	ENSP00000384247.3:n.1020-14C=
ENST00000437084.1:c.969-14C=	ENSP00000402840.1:n.969-14C=
ENST00000459642.1:n.386C=
ENST00000473353.1:n.318-14C=
ENST00000616242.4:c.1017-14C=	ENSP00000482149.1:n.1017-14C=
NM_000162.3:c.1020-14C=	NP_000153.1:n.1020-14C=
NM_033507.1:c.1023-14C=	NP_277042.1:n.1023-14C=
NM_033508.1:c.1017-14C=	NP_277043.1:n.1017-14C=
NM_000162.4:c.1020-14C=	NP_000153.1:n.1020-14C=
NM_001354800.1:c.1020-14C=	NP_001341729.1:n.1020-14C=
NM_001354801.1:c.9-14C=	NP_001341730.1:n.9-14C=
NM_001354802.1:c.-121-14C=	NP_001341731.1:n.-121-14C=
NM_001354803.1:c.54-14C=	NP_001341732.1:n.54-14C=
NM_033507.2:c.1023-14C=	NP_277042.1:n.1023-14C=
NM_033508.2:c.1017-14C=	NP_277043.1:n.1017-14C=
XM_024446707.1:c.-121-14C=	XP_024302475.1:n.-121-14C=
NM_000162.5:c.1020-14C= MANE Select	NP_000153.1:n.1020-14C=
NM_033507.3:c.1023-14C=	NP_277042.1:n.1023-14C=
NM_033508.3:c.1017-14C=	NP_277043.1:n.1017-14C=
NM_001354803.2:c.54-14C=	NP_001341732.1:n.54-14C=