Canonical Allele Identifier: CA400265351

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50673568G>A , CM000679.2:g.50673568G>A	GRCh38
NC_000017.10:g.48750929G>A , CM000679.1:g.48750929G>A	GRCh37
NC_000017.9:g.46105928G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003786.4:c.2509G>A MANE Select	NP_003777.2:p.Ala837Thr
ENST00000285238.13:c.2509G>A MANE Select	ENSP00000285238.8:p.Ala837Thr
NM_003786.3:c.2509G>A	NP_003777.2:p.Ala837Thr
ENST00000285238.12:c.2509G>A	ENSP00000285238.8:p.Ala837Thr
ENST00000502426.5:c.*1031G>A	ENSP00000427073.1:n.*1031G>A
ENST00000505699.5:c.2509G>A	ENSP00000427521.1:p.Ala837Thr
ENST00000506464.5:n.214G>A
ENST00000510633.5:c.298G>A	ENSP00000422058.1:n.298G>A
XM_005257763.2:c.2317G>A	XP_005257820.1:p.Ala773Thr
XM_005257763.3:c.2317G>A	XP_005257820.1:p.Ala773Thr
XM_011525422.1:c.2422G>A	XP_011523724.1:p.Ala808Thr
XM_011525422.2:c.2422G>A	XP_011523724.1:p.Ala808Thr
XM_011525423.1:c.2614G>A	XP_011523725.1:p.Ala872Thr
XM_011525424.1:c.1834G>A	XP_011523726.1:p.Ala612Thr
XM_011525424.2:c.1834G>A	XP_011523726.1:p.Ala612Thr
XM_011525425.1:c.1783G>A	XP_011523727.1:p.Ala595Thr
XM_011525425.2:c.1783G>A	XP_011523727.1:p.Ala595Thr
XM_017025265.2:c.1783G>A	XP_016880754.1:p.Ala595Thr
XM_017025266.1:c.2614G>A	XP_016880755.1:p.Ala872Thr
XR_001752674.1:n.2708G>A
XR_934586.1:n.2707G>A
XR_934586.3:n.2708G>A