Canonical Allele Identifier: CA341294971
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v4: 1-94418533-G-A
MyVariant Identifiers: chr1:g.94884089G>A (hg19) chr1:g.94418533G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418533G>A , CM000663.2:g.94418533G>A GRCh38
NC_000001.10:g.94884089G>A , CM000663.1:g.94884089G>A GRCh37
NC_000001.9:g.94656677G>A NCBI36
NG_008865.1:g.5157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.55G>A MANE Select ENSP00000359233.4:p.Ala19Thr
ENST00000647998.2:c.55G>A ENSP00000497921.2:p.Ala19Thr
ENST00000315713.5:c.55G>A ENSP00000326880.5:p.Ala19Thr
ENST00000370214.8:c.55G>A ENSP00000359233.4:p.Ala19Thr
NM_001122674.1:c.55G>A NP_001116146.1:p.Ala19Thr
NM_002858.3:c.55G>A NP_002849.1:p.Ala19Thr
XM_006710802.2:c.55G>A XP_006710865.2:p.Ala19Thr
NM_002858.4:c.55G>A MANE Select NP_002849.1:p.Ala19Thr
NM_001122674.2:c.55G>A NP_001116146.1:p.Ala19Thr
Search 100 bp 5'
Search 100 bp 3'