Canonical Allele Identifier: CA415098824
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153725688-C-G
MyVariant Identifiers: chrX:g.152991143C>G (hg19) chrX:g.153725688C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725688C>G , CM000685.2:g.153725688C>G GRCh38
NC_000023.10:g.152991143C>G , CM000685.1:g.152991143C>G GRCh37
NC_000023.9:g.152644337C>G NCBI36
NG_009022.2:g.5821C>G
NG_023231.1:g.4059G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.422C>G MANE Select ENSP00000218104.3:p.Ala141Gly
ENST00000218104.5:c.422C>G ENSP00000218104.3:p.Ala141Gly
NM_000033.3:c.422C>G NP_000024.2:p.Ala141Gly
XR_938507.1:n.838C>G
XR_938507.2:n.838C>G
NM_000033.4:c.422C>G MANE Select NP_000024.2:p.Ala141Gly
Search 100 bp 5'
Search 100 bp 3'