Canonical Allele Identifier: CA415098961
Gene: ABCD1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.153725754G>C
GRCh37 chrX:g.152991209G>C
Revel Score:
ENST00000218104 (MANE Select) 0.980
ClinVar RCV:
RCV003402235
ClinVar Variation:
2630273
dbSNP:
1057517954
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725754G>C , CM000685.2:g.153725754G>C GRCh38
NC_000023.10:g.152991209G>C , CM000685.1:g.152991209G>C GRCh37
NC_000023.9:g.152644403G>C NCBI36
NG_009022.2:g.5887G>C
NG_023231.1:g.3993C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.488G>C MANE Select ENSP00000218104.3:p.Arg163Pro
ENST00000218104.5:c.488G>C ENSP00000218104.3:p.Arg163Pro
NM_000033.3:c.488G>C NP_000024.2:p.Arg163Pro
XR_938507.1:n.904G>C
XR_938507.2:n.904G>C
NM_000033.4:c.488G>C MANE Select NP_000024.2:p.Arg163Pro
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