Canonical Allele Identifier: CA2264120964
Gene: ABCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50636207T>A , CM000679.2:g.50636207T>A GRCh38
NC_000017.10:g.48713568T>A , CM000679.1:g.48713568T>A GRCh37
NC_000017.9:g.46068567T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000285238.13:c.45+1226T>A MANE Select ENSP00000285238.8:n.45+1226T>A
ENST00000285238.12:c.45+1226T>A ENSP00000285238.8:n.45+1226T>A
ENST00000427699.5:c.45+1226T>A ENSP00000395160.1:n.45+1226T>A
ENST00000502426.5:c.45+1226T>A ENSP00000427073.1:n.45+1226T>A
ENST00000505699.5:c.45+1226T>A ENSP00000427521.1:n.45+1226T>A
ENST00000513511.5:c.45+1226T>A ENSP00000425697.1:n.45+1226T>A
NM_001144070.1:c.45+1226T>A NP_001137542.1:n.45+1226T>A
NM_003786.3:c.45+1226T>A NP_003777.2:n.45+1226T>A
XM_005257763.2:c.45+1226T>A XP_005257820.1:n.45+1226T>A
XM_011525422.1:c.45+1226T>A XP_011523724.1:n.45+1226T>A
XM_011525423.1:c.45+1226T>A XP_011523725.1:n.45+1226T>A
XR_934586.1:n.138+1226T>A
XM_005257763.3:c.45+1226T>A XP_005257820.1:n.45+1226T>A
XM_011525422.2:c.45+1226T>A XP_011523724.1:n.45+1226T>A
XM_017025265.2:c.-1848+1226T>A XP_016880754.1:n.-1848+1226T>A
XM_017025266.1:c.45+1226T>A XP_016880755.1:n.45+1226T>A
XR_001752674.1:n.139+1226T>A
XR_934586.3:n.139+1226T>A
NM_003786.4:c.45+1226T>A MANE Select NP_003777.2:n.45+1226T>A
NM_001144070.2:c.45+1226T>A NP_001137542.1:n.45+1226T>A