Canonical Allele Identifier: CA341294967
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v4: 1-94418531-C-A
MyVariant Identifiers: chr1:g.94884087C>A (hg19) chr1:g.94418531C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418531C>A , CM000663.2:g.94418531C>A GRCh38
NC_000001.10:g.94884087C>A , CM000663.1:g.94884087C>A GRCh37
NC_000001.9:g.94656675C>A NCBI36
NG_008865.1:g.5155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.53C>A MANE Select ENSP00000359233.4:p.Ala18Asp
ENST00000647998.2:c.53C>A ENSP00000497921.2:p.Ala18Asp
ENST00000315713.5:c.53C>A ENSP00000326880.5:p.Ala18Asp
ENST00000370214.8:c.53C>A ENSP00000359233.4:p.Ala18Asp
NM_001122674.1:c.53C>A NP_001116146.1:p.Ala18Asp
NM_002858.3:c.53C>A NP_002849.1:p.Ala18Asp
XM_006710802.2:c.53C>A XP_006710865.2:p.Ala18Asp
NM_002858.4:c.53C>A MANE Select NP_002849.1:p.Ala18Asp
NM_001122674.2:c.53C>A NP_001116146.1:p.Ala18Asp
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