Canonical Allele Identifier: CA2493945164

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846296A= , CM000664.2:g.43846296A=	GRCh38
NC_000002.11:g.44073435A= , CM000664.1:g.44073435A=	GRCh37
NC_000002.10:g.43926939A=	NCBI36
NG_008884.1:g.12333A=
NG_008884.2:g.19355A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.307A= MANE Select	ENSP00000272286.2:p.Ile103=
ENST00000643284.1:n.764A=
ENST00000644611.1:c.319A=	ENSP00000495423.1:p.Ile107=
ENST00000272286.2:c.307A=	ENSP00000272286.2:p.Ile103=
NM_022437.2:c.307A=	NP_071882.1:p.Ile103=
XM_005264483.2:c.307A=	XP_005264540.1:p.Ile103=
XM_011533029.1:c.319A=	XP_011531331.1:p.Ile107=
XM_011533030.1:c.319A=	XP_011531332.1:p.Ile107=
XM_011533031.1:c.91A=	XP_011531333.1:p.Ile31=
XR_939707.1:n.809A=
NM_001357321.1:c.307A=	NP_001344250.1:p.Ile103=
XM_011533029.2:c.319A=	XP_011531331.1:p.Ile107=
XM_011533030.2:c.319A=	XP_011531332.1:p.Ile107=
XR_001738891.1:n.823A=
XR_939707.2:n.823A=
NM_022437.3:c.307A= MANE Select	NP_071882.1:p.Ile103=
NM_001357321.2:c.307A=	NP_001344250.1:p.Ile103=