Canonical Allele Identifier: CA524392934
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs762094046
gnomAD v2: 1-94883987-G-T
gnomAD v4: 1-94418431-G-T
MyVariant Identifiers: chr1:g.94883987G>T (hg19) chr1:g.94418431G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418431G>T , CM000663.2:g.94418431G>T GRCh38
NC_000001.10:g.94883987G>T , CM000663.1:g.94883987G>T GRCh37
NC_000001.9:g.94656575G>T NCBI36
NG_008865.1:g.5055G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370214.9:c.-48G>T MANE Select ENSP00000359233.4:n.-48G>T
NM_001122674.1:c.-48G>T NP_001116146.1:n.-48G>T
NM_002858.3:c.-48G>T NP_002849.1:n.-48G>T
XM_006710802.2:c.-48G>T XP_006710865.2:n.-48G>T
NM_002858.4:c.-48G>T MANE Select NP_002849.1:n.-48G>T
NM_001122674.2:c.-48G>T NP_001116146.1:n.-48G>T
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