Canonical Allele Identifier: CA341294890
Gene: ABCD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418510G>C , CM000663.2:g.94418510G>C GRCh38
NC_000001.10:g.94884066G>C , CM000663.1:g.94884066G>C GRCh37
NC_000001.9:g.94656654G>C NCBI36
NG_008865.1:g.5134G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.32G>C MANE Select ENSP00000359233.4:p.Arg11Pro
ENST00000647998.2:c.32G>C ENSP00000497921.2:p.Arg11Pro
ENST00000315713.5:c.32G>C ENSP00000326880.5:p.Arg11Pro
ENST00000370214.8:c.32G>C ENSP00000359233.4:p.Arg11Pro
NM_001122674.1:c.32G>C NP_001116146.1:p.Arg11Pro
NM_002858.3:c.32G>C NP_002849.1:p.Arg11Pro
XM_006710802.2:c.32G>C XP_006710865.2:p.Arg11Pro
NM_002858.4:c.32G>C MANE Select NP_002849.1:p.Arg11Pro
NM_001122674.2:c.32G>C NP_001116146.1:p.Arg11Pro