Canonical Allele Identifier: CA2493945141

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846242G= , CM000664.2:g.43846242G=	GRCh38
NC_000002.11:g.44073381G= , CM000664.1:g.44073381G=	GRCh37
NC_000002.10:g.43926885G=	NCBI36
NG_008884.1:g.12279G=
NG_008884.2:g.19301G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.253G= MANE Select	ENSP00000272286.2:p.Glu85=
ENST00000643284.1:n.710G=
ENST00000644611.1:c.265G=	ENSP00000495423.1:p.Glu89=
ENST00000272286.2:c.253G=	ENSP00000272286.2:p.Glu85=
NM_022437.2:c.253G=	NP_071882.1:p.Glu85=
XM_005264483.2:c.253G=	XP_005264540.1:p.Glu85=
XM_011533029.1:c.265G=	XP_011531331.1:p.Glu89=
XM_011533030.1:c.265G=	XP_011531332.1:p.Glu89=
XM_011533031.1:c.37G=	XP_011531333.1:p.Glu13=
XR_939707.1:n.755G=
NM_001357321.1:c.253G=	NP_001344250.1:p.Glu85=
XM_011533029.2:c.265G=	XP_011531331.1:p.Glu89=
XM_011533030.2:c.265G=	XP_011531332.1:p.Glu89=
XR_001738891.1:n.769G=
XR_939707.2:n.769G=
NM_022437.3:c.253G= MANE Select	NP_071882.1:p.Glu85=
NM_001357321.2:c.253G=	NP_001344250.1:p.Glu85=