Canonical Allele Identifier: CA415117708
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358174
ClinVar RCV Id: RCV001878561 RCV003136216 RCV003401781
dbSNP Id: rs2148399307
gnomAD v4: X-153743321-T-C
MyVariant Identifiers: chrX:g.153008775T>C (hg19) chrX:g.153743321T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743321T>C , CM000685.2:g.153743321T>C GRCh38
NC_000023.10:g.153008775T>C , CM000685.1:g.153008775T>C GRCh37
NC_000023.9:g.152661969T>C NCBI36
NG_009022.2:g.23454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1966T>C MANE Select ENSP00000218104.3:p.Ser656Pro
ENST00000218104.5:c.1966T>C ENSP00000218104.3:p.Ser656Pro
NM_000033.3:c.1966T>C NP_000024.2:p.Ser656Pro
XR_938507.1:n.2438T>C
XR_938507.2:n.2438T>C
NM_000033.4:c.1966T>C MANE Select NP_000024.2:p.Ser656Pro
Search 100 bp 5'
Search 100 bp 3'