Canonical Allele Identifier: CA291607480

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50661006C>T , CM000679.2:g.50661006C>T	GRCh38
NC_000017.10:g.48738367C>T , CM000679.1:g.48738367C>T	GRCh37
NC_000017.9:g.46093366C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.890C>T MANE Select	ENSP00000285238.8:p.Pro297Leu
ENST00000285238.12:c.890C>T	ENSP00000285238.8:p.Pro297Leu
ENST00000427699.5:c.890C>T	ENSP00000395160.1:p.Pro297Leu
ENST00000502426.5:c.945C>T	ENSP00000427073.1:p.Ala315=
ENST00000505699.5:c.890C>T	ENSP00000427521.1:p.Pro297Leu
ENST00000515585.1:c.309+1638C>T
NM_001144070.1:c.890C>T	NP_001137542.1:p.Pro297Leu
NM_003786.3:c.890C>T	NP_003777.2:p.Pro297Leu
XM_005257763.2:c.806+1638C>T	XP_005257820.1:n.806+1638C>T
XM_011525422.1:c.861+1638C>T	XP_011523724.1:n.861+1638C>T
XM_011525423.1:c.945C>T	XP_011523725.1:p.Ala315=
XM_011525424.1:c.215C>T	XP_011523726.1:p.Pro72Leu
XM_011525425.1:c.114C>T	XP_011523727.1:p.Ala38=
XR_934586.1:n.1038C>T
XM_005257763.3:c.806+1638C>T	XP_005257820.1:n.806+1638C>T
XM_011525422.2:c.861+1638C>T	XP_011523724.1:n.861+1638C>T
XM_011525424.2:c.215C>T	XP_011523726.1:p.Pro72Leu
XM_011525425.2:c.114C>T	XP_011523727.1:p.Ala38=
XM_017025265.2:c.114C>T	XP_016880754.1:p.Ala38=
XM_017025266.1:c.945C>T	XP_016880755.1:p.Ala315=
XR_001752674.1:n.1039C>T
XR_934586.3:n.1039C>T
NM_003786.4:c.890C>T MANE Select	NP_003777.2:p.Pro297Leu
NM_001144070.2:c.890C>T	NP_001137542.1:p.Pro297Leu