Canonical Allele Identifier: CA341294871
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v4: 1-94418504-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418504C>T , CM000663.2:g.94418504C>T GRCh38
NC_000001.10:g.94884060C>T , CM000663.1:g.94884060C>T GRCh37
NC_000001.9:g.94656648C>T NCBI36
NG_008865.1:g.5128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.26C>T MANE Select ENSP00000359233.4:p.Thr9Met
ENST00000647998.2:c.26C>T ENSP00000497921.2:p.Thr9Met
ENST00000315713.5:c.26C>T ENSP00000326880.5:p.Thr9Met
ENST00000370214.8:c.26C>T ENSP00000359233.4:p.Thr9Met
NM_001122674.1:c.26C>T NP_001116146.1:p.Thr9Met
NM_002858.3:c.26C>T NP_002849.1:p.Thr9Met
XM_006710802.2:c.26C>T XP_006710865.2:p.Thr9Met
NM_002858.4:c.26C>T MANE Select NP_002849.1:p.Thr9Met
NM_001122674.2:c.26C>T NP_001116146.1:p.Thr9Met