Canonical Allele Identifier: CA1636716

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43832067C>T , CM000664.2:g.43832067C>T	GRCh38
NC_000002.11:g.44059206C>T , CM000664.1:g.44059206C>T	GRCh37
NC_000002.10:g.43912710C>T	NCBI36
NG_008883.1:g.11753G>A
NG_008884.2:g.5126C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.282G>A (ABCG5) MANE Select	NP_071881.1:p.Thr94=
ENST00000405322.8:c.282G>A (ABCG5) MANE Select	ENSP00000384513.2:p.Thr94=
NM_022436.2:c.282G>A (ABCG5)	NP_071881.1:p.Thr94=
ENST00000260645.5:c.282G>A (ABCG5)	ENSP00000260645.1:p.Thr94=
ENST00000405322.5:c.39G>A (ABCG5)	ENSP00000384513.1:p.Thr13=
ENST00000409962.1:c.39G>A (ABCG5)	ENSP00000386501.1:p.Thr13=
ENST00000486512.5:c.39G>A (ABCG5)	ENSP00000430935.1:p.Thr13=
ENST00000644611.1:c.-520C>T (ABCG8)	ENSP00000495423.1:n.-520C>T
ENST00000644754.1:n.936G>A (ABCG5)
XM_005264480.2:c.282G>A (ABCG5)	XP_005264537.1:p.Thr94=
XM_005264480.4:c.282G>A (ABCG5)	XP_005264537.1:p.Thr94=
XM_006712073.2:c.282G>A (ABCG5)	XP_006712136.1:p.Thr94=
XM_006712073.3:c.282G>A (ABCG5)	XP_006712136.1:p.Thr94=
XM_006712074.2:c.282G>A (ABCG5)	XP_006712137.1:p.Thr94=
XM_006712074.3:c.282G>A (ABCG5)	XP_006712137.1:p.Thr94=
XM_011533024.1:c.282G>A (ABCG5)	XP_011531326.1:p.Thr94=
XM_011533024.2:c.282G>A (ABCG5)	XP_011531326.1:p.Thr94=
XM_011533025.1:c.39G>A (ABCG5)	XP_011531327.1:p.Thr13=
XM_011533025.3:c.39G>A (ABCG5)	XP_011531327.1:p.Thr13=
XM_011533026.1:c.282G>A (ABCG5)	XP_011531328.1:p.Thr94=
XM_011533026.2:c.282G>A (ABCG5)	XP_011531328.1:p.Thr94=
XM_011533027.1:c.-12-3952G>A (ABCG5)	XP_011531329.1:n.-12-3952G>A
XM_011533027.3:c.-12-3952G>A (ABCG5)	XP_011531329.1:n.-12-3952G>A
XM_011533029.2:c.-520C>T (ABCG8)	XP_011531331.1:n.-520C>T
XM_011533031.1:c.-154+1271C>T (ABCG8)	XP_011531333.1:n.-154+1271C>T