Canonical Allele Identifier: CA2646663025
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v4: 1-94418406-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418406T>C , CM000663.2:g.94418406T>C GRCh38
NC_000001.10:g.94883962T>C , CM000663.1:g.94883962T>C GRCh37
NC_000001.9:g.94656550T>C NCBI36
NG_008865.1:g.5030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-73T>C MANE Select ENSP00000359233.4:n.-73T>C
NM_001122674.1:c.-73T>C NP_001116146.1:n.-73T>C
NM_002858.3:c.-73T>C NP_002849.1:n.-73T>C
XM_006710802.2:c.-73T>C XP_006710865.2:n.-73T>C
NM_002858.4:c.-73T>C MANE Select NP_002849.1:n.-73T>C
NM_001122674.2:c.-73T>C NP_001116146.1:n.-73T>C