Canonical Allele Identifier: CA10537462
Gene: IDS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.149483072G>T
GRCh37 chrX:g.148564603G>T
gnomAD v2:
X:148564603 G / T
gnomAD v3:
X:149483072 G / T
gnomAD v4:
chrX-149483072-G-T
Joint Max Group AF 0.00000567 (NFE)
Genomes Max Group AF 0.00001499 (NFE)
Exomes Max Group AF 0.00000347 (NFE)
ClinVar RCV:
RCV003073630
ClinVar Variation:
2140184
dbSNP:
199422227
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483072G>T , CM000685.2:g.149483072G>T GRCh38
NC_000023.10:g.148564603G>T , CM000685.1:g.148564603G>T GRCh37
NC_000023.9:g.148372508G>T NCBI36
NG_011900.3:g.27263C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1327C>A MANE Select ENSP00000339801.6:p.Arg443=
ENST00000651111.1:c.694C>A ENSP00000498395.1:p.Arg232=
ENST00000340855.10:c.1327C>A ENSP00000339801.6:p.Arg443=
ENST00000422081.6:c.694C>A ENSP00000477056.1:p.Arg232=
NM_000202.6:c.1327C>A NP_000193.1:p.Arg443=
NM_001166550.2:c.1057C>A NP_001160022.1:p.Arg353=
NM_000202.7:c.1327C>A NP_000193.1:p.Arg443=
NM_001166550.3:c.1057C>A NP_001160022.1:p.Arg353=
NM_000202.8:c.1327C>A MANE Select NP_000193.1:p.Arg443=
NM_001166550.4:c.1057C>A NP_001160022.1:p.Arg353=
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