Canonical Allele Identifier: CA2466455121
Community Standard Title: NM_000033.4(ABCD1):c.1252C= (p.Arg418=)
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736372C= , CM000685.2:g.153736372C= GRCh38
NC_000023.10:g.153001826C= , CM000685.1:g.153001826C= GRCh37
NC_000023.9:g.152655020C= NCBI36
NG_009022.2:g.16505C=

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.1252C= MANE Select NP_000024.2:p.Arg418=
ENST00000218104.6:c.1252C= MANE Select ENSP00000218104.3:p.Arg418=
NM_000033.3:c.1252C= NP_000024.2:p.Arg418=
ENST00000218104.5:c.1252C= ENSP00000218104.3:p.Arg418=
ENST00000443684.2:n.255C=
XR_938507.1:n.1668C=
XR_938507.2:n.1668C=