Canonical Allele Identifier: CA249048

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 218422
• ClinVar RCV Id: RCV000202845 ; RCV000354458 ; RCV001354702
• dbSNP Id: rs201774661
• ExAC: X:153008476 T / C
• gnomAD v2: X-153008476-T-C
• MyVariant Identifiers: chrX:g.153008476T>C (hg19) ; chrX:g.153743022T>C (hg38)
• PubMed: PMID:8651290 ; PMID:17542813 ; PMID:21700483 ; PMID:21889498 ; PMID:21966424 ; PMID:22479560 ; PMID:23566833

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743022T>C , CM000685.2:g.153743022T>C	GRCh38
NC_000023.10:g.153008476T>C , CM000685.1:g.153008476T>C	GRCh37
NC_000023.9:g.152661670T>C	NCBI36
NG_009022.2:g.23155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1816T>C MANE Select	ENSP00000218104.3:p.Ser606Pro
ENST00000218104.5:c.1816T>C	ENSP00000218104.3:p.Ser606Pro
NM_000033.3:c.1816T>C	NP_000024.2:p.Ser606Pro
XR_938507.1:n.2288T>C
XR_938507.2:n.2288T>C
NM_000033.4:c.1816T>C MANE Select	NP_000024.2:p.Ser606Pro