Canonical Allele Identifier: CA2493965026

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877608G= , CM000664.2:g.43877608G=	GRCh38
NC_000002.11:g.44104747G= , CM000664.1:g.44104747G=	GRCh37
NC_000002.10:g.43958251G=	NCBI36
NG_008884.1:g.43645G=
NG_008884.2:g.50667G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1804G= MANE Select	ENSP00000272286.2:p.Gly602=
ENST00000272286.2:c.1804G=	ENSP00000272286.2:p.Gly602=
NM_022437.2:c.1804G=	NP_071882.1:p.Gly602=
XM_005264483.2:c.1801G=	XP_005264540.1:p.Gly601=
XM_011533029.1:c.1816G=	XP_011531331.1:p.Gly606=
XM_011533030.1:c.1813G=	XP_011531332.1:p.Gly605=
XM_011533031.1:c.1588G=	XP_011531333.1:p.Gly530=
XR_939707.1:n.2306G=
NM_001357321.1:c.1801G=	NP_001344250.1:p.Gly601=
XM_011533029.2:c.1816G=	XP_011531331.1:p.Gly606=
XM_011533030.2:c.1813G=	XP_011531332.1:p.Gly605=
XR_001738891.1:n.2320G=
XR_939707.2:n.2320G=
NM_022437.3:c.1804G= MANE Select	NP_071882.1:p.Gly602=
NM_001357321.2:c.1801G=	NP_001344250.1:p.Gly601=