Canonical Allele Identifier: CA2493963679

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875310C= , CM000664.2:g.43875310C=	GRCh38
NC_000002.11:g.44102449C= , CM000664.1:g.44102449C=	GRCh37
NC_000002.10:g.43955953C=	NCBI36
NG_008884.1:g.41347C=
NG_008884.2:g.48369C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1653C= MANE Select	ENSP00000272286.2:p.Ala551=
ENST00000272286.2:c.1653C=	ENSP00000272286.2:p.Ala551=
NM_022437.2:c.1653C=	NP_071882.1:p.Ala551=
XM_005264483.2:c.1650C=	XP_005264540.1:p.Ala550=
XM_011533029.1:c.1665C=	XP_011531331.1:p.Ala555=
XM_011533030.1:c.1662C=	XP_011531332.1:p.Ala554=
XM_011533031.1:c.1437C=	XP_011531333.1:p.Ala479=
XR_939707.1:n.2155C=
NM_001357321.1:c.1650C=	NP_001344250.1:p.Ala550=
XM_011533029.2:c.1665C=	XP_011531331.1:p.Ala555=
XM_011533030.2:c.1662C=	XP_011531332.1:p.Ala554=
XR_001738891.1:n.2169C=
XR_939707.2:n.2169C=
NM_022437.3:c.1653C= MANE Select	NP_071882.1:p.Ala551=
NM_001357321.2:c.1650C=	NP_001344250.1:p.Ala550=