Canonical Allele Identifier: CA10537604
Gene: IDS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.149496471C>T
GRCh37 chrX:g.148578002C>T
Revel Score:
ENST00000340855 (MANE Select) 0.534
ENST00000541269 0.534
ENST00000370441 0.534
ENST00000370443 0.534
gnomAD v2:
X:148578002 C / T
gnomAD v3:
X:149496471 C / T
gnomAD v4:
chrX-149496471-C-T
Joint Max Group AF 0.00291333 (NFE)
Genomes Max Group AF 0.00300197 (NFE)
Exomes Max Group AF 0.00288505 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496471C>T , CM000685.2:g.149496471C>T GRCh38
NC_000023.10:g.148578002C>T , CM000685.1:g.148578002C>T GRCh37
NC_000023.9:g.148385907C>T NCBI36
NG_011900.3:g.13864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.754G>A MANE Select ENSP00000339801.6:p.Asp252Asn
ENST00000651111.1:c.121G>A ENSP00000498395.1:p.Asp41Asn
ENST00000340855.10:c.754G>A ENSP00000339801.6:p.Asp252Asn
ENST00000370441.8:c.754G>A ENSP00000359470.4:p.Asp252Asn
ENST00000422081.6:c.121G>A ENSP00000477056.1:p.Asp41Asn
ENST00000441880.1:n.114-9373G>A
ENST00000464251.5:c.680G>A ENSP00000428980.1:n.680G>A
ENST00000466019.1:n.206G>A
ENST00000466323.5:c.754G>A ENSP00000418264.1:p.Asp252Asn
ENST00000490775.5:n.539G>A
NM_000202.6:c.754G>A NP_000193.1:p.Asp252Asn
NM_001166550.2:c.484G>A NP_001160022.1:p.Asp162Asn
NM_006123.4:c.754G>A NP_006114.1:p.Asp252Asn
NR_104128.1:n.971G>A
NM_000202.7:c.754G>A NP_000193.1:p.Asp252Asn
NM_001166550.3:c.484G>A NP_001160022.1:p.Asp162Asn
NM_000202.8:c.754G>A MANE Select NP_000193.1:p.Asp252Asn
NM_001166550.4:c.484G>A NP_001160022.1:p.Asp162Asn
NM_006123.5:c.754G>A NP_006114.1:p.Asp252Asn
NR_104128.2:n.923G>A
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