Canonical Allele Identifier: CA524393114
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs1035485876
gnomAD v2: 1-94884001-G-C
gnomAD v3: 1-94418445-G-C
gnomAD v4: 1-94418445-G-C
MyVariant Identifiers: chr1:g.94884001G>C (hg19) chr1:g.94418445G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418445G>C , CM000663.2:g.94418445G>C GRCh38
NC_000001.10:g.94884001G>C , CM000663.1:g.94884001G>C GRCh37
NC_000001.9:g.94656589G>C NCBI36
NG_008865.1:g.5069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-34G>C MANE Select ENSP00000359233.4:n.-34G>C
NM_001122674.1:c.-34G>C NP_001116146.1:n.-34G>C
NM_002858.3:c.-34G>C NP_002849.1:n.-34G>C
XM_006710802.2:c.-34G>C XP_006710865.2:n.-34G>C
NM_002858.4:c.-34G>C MANE Select NP_002849.1:n.-34G>C
NM_001122674.2:c.-34G>C NP_001116146.1:n.-34G>C
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