Canonical Allele Identifier: CA2493940619

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43837870C= , CM000664.2:g.43837870C=	GRCh38
NC_000002.11:g.44065009C= , CM000664.1:g.44065009C=	GRCh37
NC_000002.10:g.43918513C=	NCBI36
NG_008883.1:g.5950G=
NG_008884.1:g.3907C=
NG_008884.2:g.10929C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.229G= (ABCG5) MANE Select	ENSP00000384513.2:p.Glu77=
ENST00000643284.1:n.520+5209C= (ABCG8)
ENST00000644611.1:c.75+5209C= (ABCG8)	ENSP00000495423.1:n.75+5209C=
ENST00000644754.1:n.883G= (ABCG5)
ENST00000260645.5:c.229G= (ABCG5)	ENSP00000260645.1:p.Glu77=
ENST00000405322.5:c.-15G= (ABCG5)	ENSP00000384513.1:n.-15G=
ENST00000409962.1:c.-15G= (ABCG5)	ENSP00000386501.1:n.-15G=
ENST00000486512.5:c.-15G= (ABCG5)	ENSP00000430935.1:n.-15G=
NM_022436.2:c.229G= (ABCG5)	NP_071881.1:p.Glu77=
XM_005264480.2:c.229G= (ABCG5)	XP_005264537.1:p.Glu77=
XM_006712073.2:c.229G= (ABCG5)	XP_006712136.1:p.Glu77=
XM_006712074.2:c.229G= (ABCG5)	XP_006712137.1:p.Glu77=
XM_011533024.1:c.229G= (ABCG5)	XP_011531326.1:p.Glu77=
XM_011533025.1:c.-15G= (ABCG5)	XP_011531327.1:n.-15G=
XM_011533026.1:c.229G= (ABCG5)	XP_011531328.1:p.Glu77=
XM_011533027.1:c.-49G= (ABCG5)	XP_011531329.1:n.-49G=
XM_011533029.1:c.75+5209C= (ABCG8)	XP_011531331.1:n.75+5209C=
XM_011533030.1:c.75+5209C= (ABCG8)	XP_011531332.1:n.75+5209C=
XM_011533031.1:c.-153-6637C= (ABCG8)	XP_011531333.1:n.-153-6637C=
XR_939707.1:n.565+5209C= (ABCG8)
XM_005264480.4:c.229G= (ABCG5)	XP_005264537.1:p.Glu77=
XM_006712073.3:c.229G= (ABCG5)	XP_006712136.1:p.Glu77=
XM_006712074.3:c.229G= (ABCG5)	XP_006712137.1:p.Glu77=
XM_011533024.2:c.229G= (ABCG5)	XP_011531326.1:p.Glu77=
XM_011533025.3:c.-15G= (ABCG5)	XP_011531327.1:n.-15G=
XM_011533026.2:c.229G= (ABCG5)	XP_011531328.1:p.Glu77=
XM_011533027.3:c.-49G= (ABCG5)	XP_011531329.1:n.-49G=
XM_011533029.2:c.75+5209C= (ABCG8)	XP_011531331.1:n.75+5209C=
XM_011533030.2:c.75+5209C= (ABCG8)	XP_011531332.1:n.75+5209C=
XR_001738891.1:n.579+5209C= (ABCG8)
XR_939707.2:n.579+5209C= (ABCG8)
NM_022436.3:c.229G= (ABCG5) MANE Select	NP_071881.1:p.Glu77=