Canonical Allele Identifier: CA8654532

Gene: ABCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50667890G>A , CM000679.2:g.50667890G>A	GRCh38
NC_000017.10:g.48745251G>A , CM000679.1:g.48745251G>A	GRCh37
NC_000017.9:g.46100250G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285238.13:c.1663G>A MANE Select	ENSP00000285238.8:p.Val555Met
ENST00000285238.12:c.1663G>A	ENSP00000285238.8:p.Val555Met
ENST00000427699.5:c.*49G>A	ENSP00000395160.1:n.*49G>A
ENST00000502426.5:c.*185G>A	ENSP00000427073.1:n.*185G>A
ENST00000505699.5:c.1663G>A	ENSP00000427521.1:p.Val555Met
NM_001144070.1:c.*49G>A	NP_001137542.1:n.*49G>A
NM_003786.3:c.1663G>A	NP_003777.2:p.Val555Met
XM_005257763.2:c.1471G>A	XP_005257820.1:p.Val491Met
XM_011525422.1:c.1576G>A	XP_011523724.1:p.Val526Met
XM_011525423.1:c.1768G>A	XP_011523725.1:p.Val590Met
XM_011525424.1:c.988G>A	XP_011523726.1:p.Val330Met
XM_011525425.1:c.937G>A	XP_011523727.1:p.Val313Met
XR_934586.1:n.1861G>A
XM_005257763.3:c.1471G>A	XP_005257820.1:p.Val491Met
XM_011525422.2:c.1576G>A	XP_011523724.1:p.Val526Met
XM_011525424.2:c.988G>A	XP_011523726.1:p.Val330Met
XM_011525425.2:c.937G>A	XP_011523727.1:p.Val313Met
XM_017025265.2:c.937G>A	XP_016880754.1:p.Val313Met
XM_017025266.1:c.1768G>A	XP_016880755.1:p.Val590Met
XR_001752674.1:n.1862G>A
XR_934586.3:n.1862G>A
NM_003786.4:c.1663G>A MANE Select	NP_003777.2:p.Val555Met
NM_001144070.2:c.*49G>A	NP_001137542.1:n.*49G>A