Canonical Allele Identifier: CA10550318
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084170
ClinVar RCV Id: RCV003009421
dbSNP Id: rs782820092
ExAC: X:153008451 T / C
gnomAD v2: X-153008451-T-C
gnomAD v3: X-153742997-T-C
gnomAD v4: X-153742997-T-C
MyVariant Identifiers: chrX:g.153008451T>C (hg19) chrX:g.153742997T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742997T>C , CM000685.2:g.153742997T>C GRCh38
NC_000023.10:g.153008451T>C , CM000685.1:g.153008451T>C GRCh37
NC_000023.9:g.152661645T>C NCBI36
NG_009022.2:g.23130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1791T>C MANE Select ENSP00000218104.3:p.Ala597=
ENST00000218104.5:c.1791T>C ENSP00000218104.3:p.Ala597=
NM_000033.3:c.1791T>C NP_000024.2:p.Ala597=
XR_938507.1:n.2263T>C
XR_938507.2:n.2263T>C
NM_000033.4:c.1791T>C MANE Select NP_000024.2:p.Ala597=
Search 100 bp 5'
Search 100 bp 3'