Canonical Allele Identifier: CA2574439573
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs2100858746
gnomAD v3: 1-94418428-G-A
gnomAD v4: 1-94418428-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418428G>A , CM000663.2:g.94418428G>A GRCh38
NC_000001.10:g.94883984G>A , CM000663.1:g.94883984G>A GRCh37
NC_000001.9:g.94656572G>A NCBI36
NG_008865.1:g.5052G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-51G>A MANE Select ENSP00000359233.4:n.-51G>A
NM_001122674.1:c.-51G>A NP_001116146.1:n.-51G>A
NM_002858.3:c.-51G>A NP_002849.1:n.-51G>A
XM_006710802.2:c.-51G>A XP_006710865.2:n.-51G>A
NM_002858.4:c.-51G>A MANE Select NP_002849.1:n.-51G>A
NM_001122674.2:c.-51G>A NP_001116146.1:n.-51G>A
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