Canonical Allele Identifier: CA959945
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs762094046
ExAC: 1:94883987 G / A
gnomAD v4: 1-94418431-G-A
MyVariant Identifiers: chr1:g.94883987G>A (hg19) chr1:g.94418431G>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000370214.9:c.-48G>A MANE Select ENSP00000359233.4:n.-48G>A
NM_001122674.1:c.-48G>A NP_001116146.1:n.-48G>A
NM_002858.3:c.-48G>A NP_002849.1:n.-48G>A
XM_006710802.2:c.-48G>A XP_006710865.2:n.-48G>A
NM_002858.4:c.-48G>A MANE Select NP_002849.1:n.-48G>A
NM_001122674.2:c.-48G>A NP_001116146.1:n.-48G>A
Search 100 bp 5'
Search 100 bp 3'