Canonical Allele Identifier: CA400254397

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50659353A>G , CM000679.2:g.50659353A>G	GRCh38
NC_000017.10:g.48736714A>G , CM000679.1:g.48736714A>G	GRCh37
NC_000017.9:g.46091713A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.791A>G MANE Select	ENSP00000285238.8:p.Glu264Gly
ENST00000285238.12:c.791A>G	ENSP00000285238.8:p.Glu264Gly
ENST00000427699.5:c.791A>G	ENSP00000395160.1:p.Glu264Gly
ENST00000502426.5:c.846A>G	ENSP00000427073.1:p.Gly282=
ENST00000505699.5:c.791A>G	ENSP00000427521.1:p.Glu264Gly
ENST00000513511.5:c.*772A>G	ENSP00000425697.1:n.*772A>G
ENST00000515585.1:c.294A>G
NM_001144070.1:c.791A>G	NP_001137542.1:p.Glu264Gly
NM_003786.3:c.791A>G	NP_003777.2:p.Glu264Gly
XM_005257763.2:c.791A>G	XP_005257820.1:p.Glu264Gly
XM_011525422.1:c.846A>G	XP_011523724.1:p.Gly282=
XM_011525423.1:c.846A>G	XP_011523725.1:p.Gly282=
XM_011525424.1:c.116A>G	XP_011523726.1:p.Glu39Gly
XM_011525425.1:c.15A>G	XP_011523727.1:p.Gly5=
XR_934586.1:n.939A>G
XM_005257763.3:c.791A>G	XP_005257820.1:p.Glu264Gly
XM_011525422.2:c.846A>G	XP_011523724.1:p.Gly282=
XM_011525424.2:c.116A>G	XP_011523726.1:p.Glu39Gly
XM_011525425.2:c.15A>G	XP_011523727.1:p.Gly5=
XM_017025265.2:c.15A>G	XP_016880754.1:p.Gly5=
XM_017025266.1:c.846A>G	XP_016880755.1:p.Gly282=
XR_001752674.1:n.940A>G
XR_934586.3:n.940A>G
NM_003786.4:c.791A>G MANE Select	NP_003777.2:p.Glu264Gly
NM_001144070.2:c.791A>G	NP_001137542.1:p.Glu264Gly