Canonical Allele Identifier: CA239085

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 193549
• ClinVar RCV Id: RCV000173623 ; RCV003512020
• dbSNP Id: rs782734602
• ExAC: X:153008928 C / T
• gnomAD v2: X-153008928-C-T
• gnomAD v3: X-153743474-C-T
• gnomAD v4: X-153743474-C-T
• MyVariant Identifiers: chrX:g.153008928C>T (hg19) ; chrX:g.153743474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743474C>T , CM000685.2:g.153743474C>T	GRCh38
NC_000023.10:g.153008928C>T , CM000685.1:g.153008928C>T	GRCh37
NC_000023.9:g.152662122C>T	NCBI36
NG_009022.2:g.23607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1992-15C>T MANE Select	ENSP00000218104.3:n.1992-15C>T
ENST00000218104.5:c.1992-15C>T	ENSP00000218104.3:n.1992-15C>T
NM_000033.3:c.1992-15C>T	NP_000024.2:n.1992-15C>T
XR_938507.1:n.2464-15C>T
XR_938507.2:n.2464-15C>T
NM_000033.4:c.1992-15C>T MANE Select	NP_000024.2:n.1992-15C>T