Canonical Allele Identifier: CA15186449

Gene: ABCG5 ABCG8

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43830928A>G , CM000664.2:g.43830928A>G	GRCh38
NC_000002.11:g.44058067A>G , CM000664.1:g.44058067A>G	GRCh37
NC_000002.10:g.43911571A>G	NCBI36
NG_008883.1:g.12892T>C
NG_008884.2:g.3987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.501+841T>C (ABCG5) MANE Select	ENSP00000384513.2:n.501+841T>C
ENST00000644754.1:n.1155+841T>C (ABCG5)
ENST00000260645.5:c.501+841T>C (ABCG5)	ENSP00000260645.1:n.501+841T>C
ENST00000405322.5:c.258+841T>C (ABCG5)	ENSP00000384513.1:n.258+841T>C
ENST00000409962.1:c.258+841T>C (ABCG5)	ENSP00000386501.1:n.258+841T>C
ENST00000486512.5:c.258+841T>C (ABCG5)	ENSP00000430935.1:n.258+841T>C
NM_022436.2:c.501+841T>C (ABCG5)	NP_071881.1:n.501+841T>C
XM_005264480.2:c.501+841T>C (ABCG5)	XP_005264537.1:n.501+841T>C
XM_006712073.2:c.501+841T>C (ABCG5)	XP_006712136.1:n.501+841T>C
XM_006712074.2:c.501+841T>C (ABCG5)	XP_006712137.1:n.501+841T>C
XM_011533024.1:c.501+841T>C (ABCG5)	XP_011531326.1:n.501+841T>C
XM_011533025.1:c.258+841T>C (ABCG5)	XP_011531327.1:n.258+841T>C
XM_011533026.1:c.501+841T>C (ABCG5)	XP_011531328.1:n.501+841T>C
XM_011533027.1:c.-12-2813T>C (ABCG5)	XP_011531329.1:n.-12-2813T>C
XM_011533031.1:c.-154+132A>G (ABCG8)	XP_011531333.1:n.-154+132A>G
XM_005264480.4:c.501+841T>C (ABCG5)	XP_005264537.1:n.501+841T>C
XM_006712073.3:c.501+841T>C (ABCG5)	XP_006712136.1:n.501+841T>C
XM_006712074.3:c.501+841T>C (ABCG5)	XP_006712137.1:n.501+841T>C
XM_011533024.2:c.501+841T>C (ABCG5)	XP_011531326.1:n.501+841T>C
XM_011533025.3:c.258+841T>C (ABCG5)	XP_011531327.1:n.258+841T>C
XM_011533026.2:c.501+841T>C (ABCG5)	XP_011531328.1:n.501+841T>C
XM_011533027.3:c.-12-2813T>C (ABCG5)	XP_011531329.1:n.-12-2813T>C
NM_022436.3:c.501+841T>C (ABCG5) MANE Select	NP_071881.1:n.501+841T>C