Canonical Allele Identifier: CA2493963606

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875182A= , CM000664.2:g.43875182A=	GRCh38
NC_000002.11:g.44102321A= , CM000664.1:g.44102321A=	GRCh37
NC_000002.10:g.43955825A=	NCBI36
NG_008884.1:g.41219A=
NG_008884.2:g.48241A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1525A= MANE Select	ENSP00000272286.2:p.Ile509=
ENST00000272286.2:c.1525A=	ENSP00000272286.2:p.Ile509=
NM_022437.2:c.1525A=	NP_071882.1:p.Ile509=
XM_005264483.2:c.1522A=	XP_005264540.1:p.Ile508=
XM_011533029.1:c.1537A=	XP_011531331.1:p.Ile513=
XM_011533030.1:c.1534A=	XP_011531332.1:p.Ile512=
XM_011533031.1:c.1309A=	XP_011531333.1:p.Ile437=
XR_939707.1:n.2027A=
NM_001357321.1:c.1522A=	NP_001344250.1:p.Ile508=
XM_011533029.2:c.1537A=	XP_011531331.1:p.Ile513=
XM_011533030.2:c.1534A=	XP_011531332.1:p.Ile512=
XR_001738891.1:n.2041A=
XR_939707.2:n.2041A=
NM_022437.3:c.1525A= MANE Select	NP_071882.1:p.Ile509=
NM_001357321.2:c.1522A=	NP_001344250.1:p.Ile508=