Canonical Allele Identifier: CA8654868

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50675371G>T , CM000679.2:g.50675371G>T	GRCh38
NC_000017.10:g.48752732G>T , CM000679.1:g.48752732G>T	GRCh37
NC_000017.9:g.46107731G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.2609G>T MANE Select	ENSP00000285238.8:p.Gly870Val
ENST00000285238.12:c.2609G>T	ENSP00000285238.8:p.Gly870Val
ENST00000502426.5:c.*1131G>T	ENSP00000427073.1:n.*1131G>T
ENST00000505699.5:c.2609G>T	ENSP00000427521.1:p.Gly870Val
ENST00000506464.5:n.314G>T
ENST00000510633.5:c.398G>T	ENSP00000422058.1:n.398G>T
ENST00000510891.1:n.245G>T
ENST00000513745.1:c.54G>T
NM_003786.3:c.2609G>T	NP_003777.2:p.Gly870Val
XM_005257763.2:c.2417G>T	XP_005257820.1:p.Gly806Val
XM_011525422.1:c.2522G>T	XP_011523724.1:p.Gly841Val
XM_011525423.1:c.2714G>T	XP_011523725.1:p.Gly905Val
XM_011525424.1:c.1934G>T	XP_011523726.1:p.Gly645Val
XM_011525425.1:c.1883G>T	XP_011523727.1:p.Gly628Val
XR_934586.1:n.2807G>T
XM_005257763.3:c.2417G>T	XP_005257820.1:p.Gly806Val
XM_011525422.2:c.2522G>T	XP_011523724.1:p.Gly841Val
XM_011525424.2:c.1934G>T	XP_011523726.1:p.Gly645Val
XM_011525425.2:c.1883G>T	XP_011523727.1:p.Gly628Val
XM_017025265.2:c.1883G>T	XP_016880754.1:p.Gly628Val
XM_017025266.1:c.2714G>T	XP_016880755.1:p.Gly905Val
XR_001752674.1:n.2808G>T
XR_934586.3:n.2808G>T
NM_003786.4:c.2609G>T MANE Select	NP_003777.2:p.Gly870Val