Canonical Allele Identifier: CA959965
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs749114837
ExAC: 1:94884012 G / C
gnomAD v2: 1-94884012-G-C
gnomAD v4: 1-94418456-G-C
MyVariant Identifiers: chr1:g.94884012G>C (hg19) chr1:g.94418456G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418456G>C , CM000663.2:g.94418456G>C GRCh38
NC_000001.10:g.94884012G>C , CM000663.1:g.94884012G>C GRCh37
NC_000001.9:g.94656600G>C NCBI36
NG_008865.1:g.5080G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-23G>C MANE Select ENSP00000359233.4:n.-23G>C
ENST00000647998.2:c.-23G>C ENSP00000497921.2:n.-23G>C
ENST00000370214.8:c.-23G>C ENSP00000359233.4:n.-23G>C
NM_001122674.1:c.-23G>C NP_001116146.1:n.-23G>C
NM_002858.3:c.-23G>C NP_002849.1:n.-23G>C
XM_006710802.2:c.-23G>C XP_006710865.2:n.-23G>C
NM_002858.4:c.-23G>C MANE Select NP_002849.1:n.-23G>C
NM_001122674.2:c.-23G>C NP_001116146.1:n.-23G>C
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