Canonical Allele Identifier: CA8654775

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50673111C>T , CM000679.2:g.50673111C>T	GRCh38
NC_000017.10:g.48750472C>T , CM000679.1:g.48750472C>T	GRCh37
NC_000017.9:g.46105471C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003786.4:c.2382C>T MANE Select	NP_003777.2:p.Ile794=
ENST00000285238.13:c.2382C>T MANE Select	ENSP00000285238.8:p.Ile794=
NM_003786.3:c.2382C>T	NP_003777.2:p.Ile794=
ENST00000285238.12:c.2382C>T	ENSP00000285238.8:p.Ile794=
ENST00000502426.5:c.*904C>T	ENSP00000427073.1:n.*904C>T
ENST00000503304.1:n.533C>T
ENST00000505699.5:c.2382C>T	ENSP00000427521.1:p.Ile794=
ENST00000506464.5:n.87C>T
ENST00000510633.5:c.140C>T	ENSP00000422058.1:p.Ser47Leu
XM_005257763.2:c.2190C>T	XP_005257820.1:p.Ile730=
XM_005257763.3:c.2190C>T	XP_005257820.1:p.Ile730=
XM_011525422.1:c.2295C>T	XP_011523724.1:p.Ile765=
XM_011525422.2:c.2295C>T	XP_011523724.1:p.Ile765=
XM_011525423.1:c.2487C>T	XP_011523725.1:p.Ile829=
XM_011525424.1:c.1707C>T	XP_011523726.1:p.Ile569=
XM_011525424.2:c.1707C>T	XP_011523726.1:p.Ile569=
XM_011525425.1:c.1656C>T	XP_011523727.1:p.Ile552=
XM_011525425.2:c.1656C>T	XP_011523727.1:p.Ile552=
XM_017025265.2:c.1656C>T	XP_016880754.1:p.Ile552=
XM_017025266.1:c.2487C>T	XP_016880755.1:p.Ile829=
XR_001752674.1:n.2581C>T
XR_934586.1:n.2580C>T
XR_934586.3:n.2581C>T