Canonical Allele Identifier: CA346661631

Gene: ABCG5 ABCG8

Linked Data

• dbSNP Id: rs6756629
• MyVariant Identifiers: chr2:g.44065090G>T (hg19) ; chr2:g.43837951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43837951G>T , CM000664.2:g.43837951G>T	GRCh38
NC_000002.11:g.44065090G>T , CM000664.1:g.44065090G>T	GRCh37
NC_000002.10:g.43918594G>T	NCBI36
NG_008883.1:g.5869C>A
NG_008884.1:g.3988G>T
NG_008884.2:g.11010G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.148C>A (ABCG5) MANE Select	ENSP00000384513.2:p.Arg50Ser
ENST00000643284.1:n.520+5290G>T (ABCG8)
ENST00000644611.1:c.75+5290G>T (ABCG8)	ENSP00000495423.1:n.75+5290G>T
ENST00000644754.1:n.802C>A (ABCG5)
ENST00000260645.5:c.148C>A (ABCG5)	ENSP00000260645.1:p.Arg50Ser
ENST00000405322.5:c.-96C>A (ABCG5)	ENSP00000384513.1:n.-96C>A
ENST00000409962.1:c.-96C>A (ABCG5)	ENSP00000386501.1:n.-96C>A
ENST00000486512.5:c.-96C>A (ABCG5)	ENSP00000430935.1:n.-96C>A
NM_022436.2:c.148C>A (ABCG5)	NP_071881.1:p.Arg50Ser
XM_005264480.2:c.148C>A (ABCG5)	XP_005264537.1:p.Arg50Ser
XM_006712073.2:c.148C>A (ABCG5)	XP_006712136.1:p.Arg50Ser
XM_006712074.2:c.148C>A (ABCG5)	XP_006712137.1:p.Arg50Ser
XM_011533024.1:c.148C>A (ABCG5)	XP_011531326.1:p.Arg50Ser
XM_011533025.1:c.-96C>A (ABCG5)	XP_011531327.1:n.-96C>A
XM_011533026.1:c.148C>A (ABCG5)	XP_011531328.1:p.Arg50Ser
XM_011533027.1:c.-130C>A (ABCG5)	XP_011531329.1:n.-130C>A
XM_011533029.1:c.75+5290G>T (ABCG8)	XP_011531331.1:n.75+5290G>T
XM_011533030.1:c.75+5290G>T (ABCG8)	XP_011531332.1:n.75+5290G>T
XM_011533031.1:c.-153-6556G>T (ABCG8)	XP_011531333.1:n.-153-6556G>T
XR_939707.1:n.565+5290G>T (ABCG8)
XM_005264480.4:c.148C>A (ABCG5)	XP_005264537.1:p.Arg50Ser
XM_006712073.3:c.148C>A (ABCG5)	XP_006712136.1:p.Arg50Ser
XM_006712074.3:c.148C>A (ABCG5)	XP_006712137.1:p.Arg50Ser
XM_011533024.2:c.148C>A (ABCG5)	XP_011531326.1:p.Arg50Ser
XM_011533025.3:c.-96C>A (ABCG5)	XP_011531327.1:n.-96C>A
XM_011533026.2:c.148C>A (ABCG5)	XP_011531328.1:p.Arg50Ser
XM_011533027.3:c.-130C>A (ABCG5)	XP_011531329.1:n.-130C>A
XM_011533029.2:c.75+5290G>T (ABCG8)	XP_011531331.1:n.75+5290G>T
XM_011533030.2:c.75+5290G>T (ABCG8)	XP_011531332.1:n.75+5290G>T
XR_001738891.1:n.579+5290G>T (ABCG8)
XR_939707.2:n.579+5290G>T (ABCG8)
NM_022436.3:c.148C>A (ABCG5) MANE Select	NP_071881.1:p.Arg50Ser