Canonical Allele Identifier: CA400265178

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50673516C>G , CM000679.2:g.50673516C>G	GRCh38
NC_000017.10:g.48750877C>G , CM000679.1:g.48750877C>G	GRCh37
NC_000017.9:g.46105876C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.2457C>G MANE Select	ENSP00000285238.8:p.Asp819Glu
ENST00000285238.12:c.2457C>G	ENSP00000285238.8:p.Asp819Glu
ENST00000502426.5:c.*979C>G	ENSP00000427073.1:n.*979C>G
ENST00000505699.5:c.2457C>G	ENSP00000427521.1:p.Asp819Glu
ENST00000506464.5:n.162C>G
ENST00000510633.5:c.246C>G	ENSP00000422058.1:n.246C>G
NM_003786.3:c.2457C>G	NP_003777.2:p.Asp819Glu
XM_005257763.2:c.2265C>G	XP_005257820.1:p.Asp755Glu
XM_011525422.1:c.2370C>G	XP_011523724.1:p.Asp790Glu
XM_011525423.1:c.2562C>G	XP_011523725.1:p.Asp854Glu
XM_011525424.1:c.1782C>G	XP_011523726.1:p.Asp594Glu
XM_011525425.1:c.1731C>G	XP_011523727.1:p.Asp577Glu
XR_934586.1:n.2655C>G
XM_005257763.3:c.2265C>G	XP_005257820.1:p.Asp755Glu
XM_011525422.2:c.2370C>G	XP_011523724.1:p.Asp790Glu
XM_011525424.2:c.1782C>G	XP_011523726.1:p.Asp594Glu
XM_011525425.2:c.1731C>G	XP_011523727.1:p.Asp577Glu
XM_017025265.2:c.1731C>G	XP_016880754.1:p.Asp577Glu
XM_017025266.1:c.2562C>G	XP_016880755.1:p.Asp854Glu
XR_001752674.1:n.2656C>G
XR_934586.3:n.2656C>G
NM_003786.4:c.2457C>G MANE Select	NP_003777.2:p.Asp819Glu