Canonical Allele Identifier: CA203395
Gene: IDS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.149490395T>C
GRCh37 chrX:g.148571926T>C
Revel Score:
ENST00000340855 (MANE Select) 0.374
ENST00000541269 0.374
ENST00000370441 0.374
gnomAD v2:
X:148571926 T / C
gnomAD v3:
X:149490395 T / C
gnomAD v4:
chrX-149490395-T-C
Joint Max Group AF 0.01515029 (AFR)
Genomes Max Group AF 0.01460869 (AFR)
Exomes Max Group AF 0.01502492 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490395T>C , CM000685.2:g.149490395T>C GRCh38
NC_000023.10:g.148571926T>C , CM000685.1:g.148571926T>C GRCh37
NC_000023.9:g.148379831T>C NCBI36
NG_011900.3:g.19940A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.925A>G MANE Select ENSP00000339801.6:p.Thr309Ala
ENST00000651111.1:c.292A>G ENSP00000498395.1:p.Thr98Ala
ENST00000340855.10:c.925A>G ENSP00000339801.6:p.Thr309Ala
ENST00000370441.8:c.925A>G ENSP00000359470.4:p.Thr309Ala
ENST00000422081.6:c.292A>G ENSP00000477056.1:p.Thr98Ala
ENST00000441880.1:n.114-3297A>G
ENST00000464251.5:c.851A>G ENSP00000428980.1:n.851A>G
ENST00000466323.5:c.*116A>G ENSP00000418264.1:n.*116A>G
ENST00000490775.5:n.710A>G
NM_000202.6:c.925A>G NP_000193.1:p.Thr309Ala
NM_001166550.2:c.655A>G NP_001160022.1:p.Thr219Ala
NM_006123.4:c.925A>G NP_006114.1:p.Thr309Ala
NR_104128.1:n.1272A>G
NM_000202.7:c.925A>G NP_000193.1:p.Thr309Ala
NM_001166550.3:c.655A>G NP_001160022.1:p.Thr219Ala
NM_000202.8:c.925A>G MANE Select NP_000193.1:p.Thr309Ala
NM_001166550.4:c.655A>G NP_001160022.1:p.Thr219Ala
NM_006123.5:c.925A>G NP_006114.1:p.Thr309Ala
NR_104128.2:n.1224A>G
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