Canonical Allele Identifier: CA645161105

Gene: ABCD1

Linked Data

• dbSNP Id: rs1395214692
• gnomAD v2: X-153006493-C-T
• gnomAD v3: X-153741039-C-T
• gnomAD v4: X-153741039-C-T
• MyVariant Identifiers: chrX:g.153006493C>T (hg19) ; chrX:g.153741039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153741039C>T , CM000685.2:g.153741039C>T	GRCh38
NC_000023.10:g.153006493C>T , CM000685.1:g.153006493C>T	GRCh37
NC_000023.9:g.152659687C>T	NCBI36
NG_009022.2:g.21172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1780+320C>T MANE Select	ENSP00000218104.3:n.1780+320C>T
ENST00000218104.5:c.1780+320C>T	ENSP00000218104.3:n.1780+320C>T
NM_000033.3:c.1780+320C>T	NP_000024.2:n.1780+320C>T
XR_938507.1:n.2252+320C>T
XR_938507.2:n.2252+320C>T
NM_000033.4:c.1780+320C>T MANE Select	NP_000024.2:n.1780+320C>T