Canonical Allele Identifier: CA278108

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 11302
• ClinVar RCV Id: RCV000012054 ; RCV001781250 ; RCV003415686
• dbSNP Id: rs128624221
• COSMIC: COSM3372144
• MyVariant Identifiers: chrX:g.153001964C>T (hg19) ; chrX:g.153736510C>T (hg38)
• PubMed: PMID:8040304

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736510C>T , CM000685.2:g.153736510C>T	GRCh38
NC_000023.10:g.153001964C>T , CM000685.1:g.153001964C>T	GRCh37
NC_000023.9:g.152655158C>T	NCBI36
NG_009022.2:g.16643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1390C>T MANE Select	ENSP00000218104.3:p.Arg464Ter
ENST00000218104.5:c.1390C>T	ENSP00000218104.3:p.Arg464Ter
ENST00000443684.2:n.393C>T
NM_000033.3:c.1390C>T	NP_000024.2:p.Arg464Ter
XR_938507.1:n.1806C>T
XR_938507.2:n.1806C>T
NM_000033.4:c.1390C>T MANE Select	NP_000024.2:p.Arg464Ter