Canonical Allele Identifier: CA1637543

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875214C>T , CM000664.2:g.43875214C>T	GRCh38
NC_000002.11:g.44102353C>T , CM000664.1:g.44102353C>T	GRCh37
NC_000002.10:g.43955857C>T	NCBI36
NG_008884.1:g.41251C>T
NG_008884.2:g.48273C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1557C>T MANE Select	NP_071882.1:p.Ala519=
ENST00000272286.4:c.1557C>T MANE Select	ENSP00000272286.2:p.Ala519=
NM_001357321.1:c.1554C>T	NP_001344250.1:p.Ala518=
NM_001357321.2:c.1554C>T	NP_001344250.1:p.Ala518=
NM_022437.2:c.1557C>T	NP_071882.1:p.Ala519=
ENST00000272286.2:c.1557C>T	ENSP00000272286.2:p.Ala519=
XM_005264483.2:c.1554C>T	XP_005264540.1:p.Ala518=
XM_011533029.1:c.1569C>T	XP_011531331.1:p.Ala523=
XM_011533029.2:c.1569C>T	XP_011531331.1:p.Ala523=
XM_011533030.1:c.1566C>T	XP_011531332.1:p.Ala522=
XM_011533030.2:c.1566C>T	XP_011531332.1:p.Ala522=
XM_011533031.1:c.1341C>T	XP_011531333.1:p.Ala447=
XR_001738891.1:n.2073C>T
XR_939707.1:n.2059C>T
XR_939707.2:n.2073C>T