Canonical Allele Identifier: CA2646663041
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v4: 1-94418419-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418419G>T , CM000663.2:g.94418419G>T GRCh38
NC_000001.10:g.94883975G>T , CM000663.1:g.94883975G>T GRCh37
NC_000001.9:g.94656563G>T NCBI36
NG_008865.1:g.5043G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-60G>T MANE Select ENSP00000359233.4:n.-60G>T
NM_001122674.1:c.-60G>T NP_001116146.1:n.-60G>T
NM_002858.3:c.-60G>T NP_002849.1:n.-60G>T
XM_006710802.2:c.-60G>T XP_006710865.2:n.-60G>T
NM_002858.4:c.-60G>T MANE Select NP_002849.1:n.-60G>T
NM_001122674.2:c.-60G>T NP_001116146.1:n.-60G>T