Canonical Allele Identifier: CA10549951

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 444829
• ClinVar RCV Id: RCV000513392 ; RCV001087539 ; RCV002329212
• dbSNP Id: rs74315279
• ExAC: X:152991141 C / A
• gnomAD v2: X-152991141-C-A
• gnomAD v3: X-153725686-C-A
• gnomAD v4: X-153725686-C-A
• MyVariant Identifiers: chrX:g.152991141C>A (hg19) ; chrX:g.153725686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725686C>A , CM000685.2:g.153725686C>A	GRCh38
NC_000023.10:g.152991141C>A , CM000685.1:g.152991141C>A	GRCh37
NC_000023.9:g.152644335C>A	NCBI36
NG_009022.2:g.5819C>A
NG_023231.1:g.4061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.420C>A MANE Select	ENSP00000218104.3:p.Ile140=
ENST00000218104.5:c.420C>A	ENSP00000218104.3:p.Ile140=
NM_000033.3:c.420C>A	NP_000024.2:p.Ile140=
XR_938507.1:n.836C>A
XR_938507.2:n.836C>A
NM_000033.4:c.420C>A MANE Select	NP_000024.2:p.Ile140=