Canonical Allele Identifier: CA400257716

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50665175C>T , CM000679.2:g.50665175C>T	GRCh38
NC_000017.10:g.48742536C>T , CM000679.1:g.48742536C>T	GRCh37
NC_000017.9:g.46097535C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003786.4:c.1361C>T MANE Select	NP_003777.2:p.Ala454Val
ENST00000285238.13:c.1361C>T MANE Select	ENSP00000285238.8:p.Ala454Val
NM_001144070.1:c.1361C>T	NP_001137542.1:p.Ala454Val
NM_001144070.2:c.1361C>T	NP_001137542.1:p.Ala454Val
NM_003786.3:c.1361C>T	NP_003777.2:p.Ala454Val
ENST00000285238.12:c.1361C>T	ENSP00000285238.8:p.Ala454Val
ENST00000427699.5:c.1361C>T	ENSP00000395160.1:p.Ala454Val
ENST00000502426.5:c.1416C>T	ENSP00000427073.1:p.Gly472=
ENST00000505699.5:c.1361C>T	ENSP00000427521.1:p.Ala454Val
ENST00000513589.1:n.471C>T
XM_005257763.2:c.1169C>T	XP_005257820.1:p.Ala390Val
XM_005257763.3:c.1169C>T	XP_005257820.1:p.Ala390Val
XM_011525422.1:c.1274C>T	XP_011523724.1:p.Ala425Val
XM_011525422.2:c.1274C>T	XP_011523724.1:p.Ala425Val
XM_011525423.1:c.1466C>T	XP_011523725.1:p.Ala489Val
XM_011525424.1:c.686C>T	XP_011523726.1:p.Ala229Val
XM_011525424.2:c.686C>T	XP_011523726.1:p.Ala229Val
XM_011525425.1:c.635C>T	XP_011523727.1:p.Ala212Val
XM_011525425.2:c.635C>T	XP_011523727.1:p.Ala212Val
XM_017025265.2:c.635C>T	XP_016880754.1:p.Ala212Val
XM_017025266.1:c.1466C>T	XP_016880755.1:p.Ala489Val
XR_001752674.1:n.1560C>T
XR_934586.1:n.1559C>T
XR_934586.3:n.1560C>T