Canonical Allele Identifier: CA341294873
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs1180888354
gnomAD v2: 1-94884062-G-A
gnomAD v4: 1-94418506-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418506G>A , CM000663.2:g.94418506G>A GRCh38
NC_000001.10:g.94884062G>A , CM000663.1:g.94884062G>A GRCh37
NC_000001.9:g.94656650G>A NCBI36
NG_008865.1:g.5130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.28G>A MANE Select ENSP00000359233.4:p.Ala10Thr
ENST00000647998.2:c.28G>A ENSP00000497921.2:p.Ala10Thr
ENST00000315713.5:c.28G>A ENSP00000326880.5:p.Ala10Thr
ENST00000370214.8:c.28G>A ENSP00000359233.4:p.Ala10Thr
NM_001122674.1:c.28G>A NP_001116146.1:p.Ala10Thr
NM_002858.3:c.28G>A NP_002849.1:p.Ala10Thr
XM_006710802.2:c.28G>A XP_006710865.2:p.Ala10Thr
NM_002858.4:c.28G>A MANE Select NP_002849.1:p.Ala10Thr
NM_001122674.2:c.28G>A NP_001116146.1:p.Ala10Thr