Canonical Allele Identifier: CA1637532

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875163G>A , CM000664.2:g.43875163G>A	GRCh38
NC_000002.11:g.44102302G>A , CM000664.1:g.44102302G>A	GRCh37
NC_000002.10:g.43955806G>A	NCBI36
NG_008884.1:g.41200G>A
NG_008884.2:g.48222G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1506G>A MANE Select	NP_071882.1:p.Pro502=
ENST00000272286.4:c.1506G>A MANE Select	ENSP00000272286.2:p.Pro502=
NM_001357321.1:c.1503G>A	NP_001344250.1:p.Pro501=
NM_001357321.2:c.1503G>A	NP_001344250.1:p.Pro501=
NM_022437.2:c.1506G>A	NP_071882.1:p.Pro502=
ENST00000272286.2:c.1506G>A	ENSP00000272286.2:p.Pro502=
XM_005264483.2:c.1503G>A	XP_005264540.1:p.Pro501=
XM_011533029.1:c.1518G>A	XP_011531331.1:p.Pro506=
XM_011533029.2:c.1518G>A	XP_011531331.1:p.Pro506=
XM_011533030.1:c.1515G>A	XP_011531332.1:p.Pro505=
XM_011533030.2:c.1515G>A	XP_011531332.1:p.Pro505=
XM_011533031.1:c.1290G>A	XP_011531333.1:p.Pro430=
XR_001738891.1:n.2022G>A
XR_939707.1:n.2008G>A
XR_939707.2:n.2022G>A