Canonical Allele Identifier: CA645161110

Gene: ABCD1

Linked Data

• dbSNP Id: rs1557054926
• gnomAD v2: X-153006550-G-C
• gnomAD v3: X-153741096-G-C
• gnomAD v4: X-153741096-G-C
• MyVariant Identifiers: chrX:g.153006550G>C (hg19) ; chrX:g.153741096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153741096G>C , CM000685.2:g.153741096G>C	GRCh38
NC_000023.10:g.153006550G>C , CM000685.1:g.153006550G>C	GRCh37
NC_000023.9:g.152659744G>C	NCBI36
NG_009022.2:g.21229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1780+377G>C MANE Select	ENSP00000218104.3:n.1780+377G>C
ENST00000218104.5:c.1780+377G>C	ENSP00000218104.3:n.1780+377G>C
NM_000033.3:c.1780+377G>C	NP_000024.2:n.1780+377G>C
XR_938507.1:n.2252+377G>C
XR_938507.2:n.2252+377G>C
NM_000033.4:c.1780+377G>C MANE Select	NP_000024.2:n.1780+377G>C