Canonical Allele Identifier: CA740556506
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs945116946
gnomAD v4: 1-94418447-C-T
MyVariant Identifiers: chr1:g.94884003C>T (hg19) chr1:g.94418447C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418447C>T , CM000663.2:g.94418447C>T GRCh38
NC_000001.10:g.94884003C>T , CM000663.1:g.94884003C>T GRCh37
NC_000001.9:g.94656591C>T NCBI36
NG_008865.1:g.5071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-32C>T MANE Select ENSP00000359233.4:n.-32C>T
NM_001122674.1:c.-32C>T NP_001116146.1:n.-32C>T
NM_002858.3:c.-32C>T NP_002849.1:n.-32C>T
XM_006710802.2:c.-32C>T XP_006710865.2:n.-32C>T
NM_002858.4:c.-32C>T MANE Select NP_002849.1:n.-32C>T
NM_001122674.2:c.-32C>T NP_001116146.1:n.-32C>T
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