Canonical Allele Identifier: CA415105460
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736229A>C , CM000685.2:g.153736229A>C GRCh38
NC_000023.10:g.153001683A>C , CM000685.1:g.153001683A>C GRCh37
NC_000023.9:g.152654877A>C NCBI36
NG_009022.2:g.16362A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1199A>C MANE Select ENSP00000218104.3:p.Glu400Ala
ENST00000218104.5:c.1199A>C ENSP00000218104.3:p.Glu400Ala
ENST00000443684.2:n.202A>C
NM_000033.3:c.1199A>C NP_000024.2:p.Glu400Ala
XR_938507.1:n.1615A>C
XR_938507.2:n.1615A>C
NM_000033.4:c.1199A>C MANE Select NP_000024.2:p.Glu400Ala