Canonical Allele Identifier: CA2493963710

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875357A= , CM000664.2:g.43875357A=	GRCh38
NC_000002.11:g.44102496A= , CM000664.1:g.44102496A=	GRCh37
NC_000002.10:g.43956000A=	NCBI36
NG_008884.1:g.41394A=
NG_008884.2:g.48416A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1700A= MANE Select	ENSP00000272286.2:p.Tyr567=
ENST00000272286.2:c.1700A=	ENSP00000272286.2:p.Tyr567=
NM_022437.2:c.1700A=	NP_071882.1:p.Tyr567=
XM_005264483.2:c.1697A=	XP_005264540.1:p.Tyr566=
XM_011533029.1:c.1712A=	XP_011531331.1:p.Tyr571=
XM_011533030.1:c.1709A=	XP_011531332.1:p.Tyr570=
XM_011533031.1:c.1484A=	XP_011531333.1:p.Tyr495=
XR_939707.1:n.2202A=
NM_001357321.1:c.1697A=	NP_001344250.1:p.Tyr566=
XM_011533029.2:c.1712A=	XP_011531331.1:p.Tyr571=
XM_011533030.2:c.1709A=	XP_011531332.1:p.Tyr570=
XR_001738891.1:n.2216A=
XR_939707.2:n.2216A=
NM_022437.3:c.1700A= MANE Select	NP_071882.1:p.Tyr567=
NM_001357321.2:c.1697A=	NP_001344250.1:p.Tyr566=