Canonical Allele Identifier: CA46471096

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43832299G>A , CM000664.2:g.43832299G>A	GRCh38
NC_000002.11:g.44059438G>A , CM000664.1:g.44059438G>A	GRCh37
NC_000002.10:g.43912942G>A	NCBI36
NG_008883.1:g.11521C>T
NG_008884.2:g.5358G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.266-216C>T (ABCG5) MANE Select	NP_071881.1:n.266-216C>T
ENST00000405322.8:c.266-216C>T (ABCG5) MANE Select	ENSP00000384513.2:n.266-216C>T
NM_022436.2:c.266-216C>T (ABCG5)	NP_071881.1:n.266-216C>T
ENST00000260645.5:c.266-216C>T (ABCG5)	ENSP00000260645.1:n.266-216C>T
ENST00000405322.5:c.23-216C>T (ABCG5)	ENSP00000384513.1:n.23-216C>T
ENST00000409962.1:c.23-216C>T (ABCG5)	ENSP00000386501.1:n.23-216C>T
ENST00000486512.5:c.23-216C>T (ABCG5)	ENSP00000430935.1:n.23-216C>T
ENST00000643284.1:n.158G>A (ABCG8)
ENST00000644611.1:c.-288G>A (ABCG8)	ENSP00000495423.1:n.-288G>A
ENST00000644754.1:n.920-216C>T (ABCG5)
XM_005264480.2:c.266-216C>T (ABCG5)	XP_005264537.1:n.266-216C>T
XM_005264480.4:c.266-216C>T (ABCG5)	XP_005264537.1:n.266-216C>T
XM_006712073.2:c.266-216C>T (ABCG5)	XP_006712136.1:n.266-216C>T
XM_006712073.3:c.266-216C>T (ABCG5)	XP_006712136.1:n.266-216C>T
XM_006712074.2:c.266-216C>T (ABCG5)	XP_006712137.1:n.266-216C>T
XM_006712074.3:c.266-216C>T (ABCG5)	XP_006712137.1:n.266-216C>T
XM_011533024.1:c.266-216C>T (ABCG5)	XP_011531326.1:n.266-216C>T
XM_011533024.2:c.266-216C>T (ABCG5)	XP_011531326.1:n.266-216C>T
XM_011533025.1:c.23-216C>T (ABCG5)	XP_011531327.1:n.23-216C>T
XM_011533025.3:c.23-216C>T (ABCG5)	XP_011531327.1:n.23-216C>T
XM_011533026.1:c.266-216C>T (ABCG5)	XP_011531328.1:n.266-216C>T
XM_011533026.2:c.266-216C>T (ABCG5)	XP_011531328.1:n.266-216C>T
XM_011533027.1:c.-12-4184C>T (ABCG5)	XP_011531329.1:n.-12-4184C>T
XM_011533027.3:c.-12-4184C>T (ABCG5)	XP_011531329.1:n.-12-4184C>T
XM_011533029.1:c.-288G>A (ABCG8)	XP_011531331.1:n.-288G>A
XM_011533029.2:c.-288G>A (ABCG8)	XP_011531331.1:n.-288G>A
XM_011533030.1:c.-288G>A (ABCG8)	XP_011531332.1:n.-288G>A
XM_011533030.2:c.-288G>A (ABCG8)	XP_011531332.1:n.-288G>A
XM_011533031.1:c.-154+1503G>A (ABCG8)	XP_011531333.1:n.-154+1503G>A
XR_001738891.1:n.217G>A (ABCG8)
XR_939707.1:n.203G>A (ABCG8)
XR_939707.2:n.217G>A (ABCG8)