Canonical Allele Identifier: CA341295006
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs1659116685
gnomAD v4: 1-94418540-T-C
MyVariant Identifiers: chr1:g.94884096T>C (hg19) chr1:g.94418540T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418540T>C , CM000663.2:g.94418540T>C GRCh38
NC_000001.10:g.94884096T>C , CM000663.1:g.94884096T>C GRCh37
NC_000001.9:g.94656684T>C NCBI36
NG_008865.1:g.5164T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.62T>C MANE Select ENSP00000359233.4:p.Leu21Pro
ENST00000647998.2:c.62T>C ENSP00000497921.2:p.Leu21Pro
ENST00000315713.5:c.62T>C ENSP00000326880.5:p.Leu21Pro
ENST00000370214.8:c.62T>C ENSP00000359233.4:p.Leu21Pro
NM_001122674.1:c.62T>C NP_001116146.1:p.Leu21Pro
NM_002858.3:c.62T>C NP_002849.1:p.Leu21Pro
XM_006710802.2:c.62T>C XP_006710865.2:p.Leu21Pro
NM_002858.4:c.62T>C MANE Select NP_002849.1:p.Leu21Pro
NM_001122674.2:c.62T>C NP_001116146.1:p.Leu21Pro
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