Canonical Allele Identifier: CA291619537

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50675399T>G , CM000679.2:g.50675399T>G	GRCh38
NC_000017.10:g.48752760T>G , CM000679.1:g.48752760T>G	GRCh37
NC_000017.9:g.46107759T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.2637T>G MANE Select	ENSP00000285238.8:p.Ile879Met
ENST00000285238.12:c.2637T>G	ENSP00000285238.8:p.Ile879Met
ENST00000502426.5:c.*1159T>G	ENSP00000427073.1:n.*1159T>G
ENST00000505699.5:c.2637T>G	ENSP00000427521.1:p.Ile879Met
ENST00000506464.5:n.342T>G
ENST00000510633.5:c.426T>G	ENSP00000422058.1:n.426T>G
ENST00000510891.1:n.273T>G
ENST00000513745.1:c.82T>G
NM_003786.3:c.2637T>G	NP_003777.2:p.Ile879Met
XM_005257763.2:c.2445T>G	XP_005257820.1:p.Ile815Met
XM_011525422.1:c.2550T>G	XP_011523724.1:p.Ile850Met
XM_011525423.1:c.2742T>G	XP_011523725.1:p.Ile914Met
XM_011525424.1:c.1962T>G	XP_011523726.1:p.Ile654Met
XM_011525425.1:c.1911T>G	XP_011523727.1:p.Ile637Met
XR_934586.1:n.2835T>G
XM_005257763.3:c.2445T>G	XP_005257820.1:p.Ile815Met
XM_011525422.2:c.2550T>G	XP_011523724.1:p.Ile850Met
XM_011525424.2:c.1962T>G	XP_011523726.1:p.Ile654Met
XM_011525425.2:c.1911T>G	XP_011523727.1:p.Ile637Met
XM_017025265.2:c.1911T>G	XP_016880754.1:p.Ile637Met
XM_017025266.1:c.2742T>G	XP_016880755.1:p.Ile914Met
XR_001752674.1:n.2836T>G
XR_934586.3:n.2836T>G
NM_003786.4:c.2637T>G MANE Select	NP_003777.2:p.Ile879Met