Canonical Allele Identifier: CA10549907

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 386195
• ClinVar RCV Id: RCV000418353 ; RCV001276529
• dbSNP Id: rs375019683
• ExAC: X:152990821 C / T
• gnomAD v2: X-152990821-C-T
• gnomAD v3: X-153725366-C-T
• gnomAD v4: X-153725366-C-T
• MyVariant Identifiers: chrX:g.152990821C>T (hg19) ; chrX:g.153725366C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725366C>T , CM000685.2:g.153725366C>T	GRCh38
NC_000023.10:g.152990821C>T , CM000685.1:g.152990821C>T	GRCh37
NC_000023.9:g.152644015C>T	NCBI36
NG_009022.2:g.5499C>T
NG_023231.1:g.4381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.100C>T MANE Select	ENSP00000218104.3:p.Pro34Ser
ENST00000218104.5:c.100C>T	ENSP00000218104.3:p.Pro34Ser
NM_000033.3:c.100C>T	NP_000024.2:p.Pro34Ser
XR_938507.1:n.516C>T
XR_938507.2:n.516C>T
NM_000033.4:c.100C>T MANE Select	NP_000024.2:p.Pro34Ser