Canonical Allele Identifier: CA2493965141

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877812T= , CM000664.2:g.43877812T=	GRCh38
NC_000002.11:g.44104951T= , CM000664.1:g.44104951T=	GRCh37
NC_000002.10:g.43958455T=	NCBI36
NG_008884.1:g.43849T=
NG_008884.2:g.50871T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1921T= MANE Select	ENSP00000272286.2:p.Tyr641=
ENST00000272286.2:c.1921T=	ENSP00000272286.2:p.Tyr641=
NM_022437.2:c.1921T=	NP_071882.1:p.Tyr641=
XM_005264483.2:c.1918T=	XP_005264540.1:p.Tyr640=
XM_011533029.1:c.1933T=	XP_011531331.1:p.Tyr645=
XM_011533030.1:c.1930T=	XP_011531332.1:p.Tyr644=
XM_011533031.1:c.1705T=	XP_011531333.1:p.Tyr569=
XR_939707.1:n.2423T=
NM_001357321.1:c.1918T=	NP_001344250.1:p.Tyr640=
XM_011533029.2:c.1933T=	XP_011531331.1:p.Tyr645=
XM_011533030.2:c.1930T=	XP_011531332.1:p.Tyr644=
XR_001738891.1:n.2437T=
XR_939707.2:n.2437T=
NM_022437.3:c.1921T= MANE Select	NP_071882.1:p.Tyr641=
NM_001357321.2:c.1918T=	NP_001344250.1:p.Tyr640=