Canonical Allele Identifier: CA346668290

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43832068G>A , CM000664.2:g.43832068G>A	GRCh38
NC_000002.11:g.44059207G>A , CM000664.1:g.44059207G>A	GRCh37
NC_000002.10:g.43912711G>A	NCBI36
NG_008883.1:g.11752C>T
NG_008884.2:g.5127G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.281C>T (ABCG5) MANE Select	NP_071881.1:p.Thr94Met
ENST00000405322.8:c.281C>T (ABCG5) MANE Select	ENSP00000384513.2:p.Thr94Met
NM_022436.2:c.281C>T (ABCG5)	NP_071881.1:p.Thr94Met
ENST00000260645.5:c.281C>T (ABCG5)	ENSP00000260645.1:p.Thr94Met
ENST00000405322.5:c.38C>T (ABCG5)	ENSP00000384513.1:p.Thr13Met
ENST00000409962.1:c.38C>T (ABCG5)	ENSP00000386501.1:p.Thr13Met
ENST00000486512.5:c.38C>T (ABCG5)	ENSP00000430935.1:p.Thr13Met
ENST00000644611.1:c.-519G>A (ABCG8)	ENSP00000495423.1:n.-519G>A
ENST00000644754.1:n.935C>T (ABCG5)
XM_005264480.2:c.281C>T (ABCG5)	XP_005264537.1:p.Thr94Met
XM_005264480.4:c.281C>T (ABCG5)	XP_005264537.1:p.Thr94Met
XM_006712073.2:c.281C>T (ABCG5)	XP_006712136.1:p.Thr94Met
XM_006712073.3:c.281C>T (ABCG5)	XP_006712136.1:p.Thr94Met
XM_006712074.2:c.281C>T (ABCG5)	XP_006712137.1:p.Thr94Met
XM_006712074.3:c.281C>T (ABCG5)	XP_006712137.1:p.Thr94Met
XM_011533024.1:c.281C>T (ABCG5)	XP_011531326.1:p.Thr94Met
XM_011533024.2:c.281C>T (ABCG5)	XP_011531326.1:p.Thr94Met
XM_011533025.1:c.38C>T (ABCG5)	XP_011531327.1:p.Thr13Met
XM_011533025.3:c.38C>T (ABCG5)	XP_011531327.1:p.Thr13Met
XM_011533026.1:c.281C>T (ABCG5)	XP_011531328.1:p.Thr94Met
XM_011533026.2:c.281C>T (ABCG5)	XP_011531328.1:p.Thr94Met
XM_011533027.1:c.-12-3953C>T (ABCG5)	XP_011531329.1:n.-12-3953C>T
XM_011533027.3:c.-12-3953C>T (ABCG5)	XP_011531329.1:n.-12-3953C>T
XM_011533029.2:c.-519G>A (ABCG8)	XP_011531331.1:n.-519G>A
XM_011533031.1:c.-154+1272G>A (ABCG8)	XP_011531333.1:n.-154+1272G>A