Canonical Allele Identifier: CA2493965068

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877679A= , CM000664.2:g.43877679A=	GRCh38
NC_000002.11:g.44104818A= , CM000664.1:g.44104818A=	GRCh37
NC_000002.10:g.43958322A=	NCBI36
NG_008884.1:g.43716A=
NG_008884.2:g.50738A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1875A= MANE Select	ENSP00000272286.2:p.Ser625=
ENST00000272286.2:c.1875A=	ENSP00000272286.2:p.Ser625=
NM_022437.2:c.1875A=	NP_071882.1:p.Ser625=
XM_005264483.2:c.1872A=	XP_005264540.1:p.Ser624=
XM_011533029.1:c.1887A=	XP_011531331.1:p.Ser629=
XM_011533030.1:c.1884A=	XP_011531332.1:p.Ser628=
XM_011533031.1:c.1659A=	XP_011531333.1:p.Ser553=
XR_939707.1:n.2377A=
NM_001357321.1:c.1872A=	NP_001344250.1:p.Ser624=
XM_011533029.2:c.1887A=	XP_011531331.1:p.Ser629=
XM_011533030.2:c.1884A=	XP_011531332.1:p.Ser628=
XR_001738891.1:n.2391A=
XR_939707.2:n.2391A=
NM_022437.3:c.1875A= MANE Select	NP_071882.1:p.Ser625=
NM_001357321.2:c.1872A=	NP_001344250.1:p.Ser624=