Canonical Allele Identifier: CA10537654
Gene: IDS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.149500989G>T
GRCh37 chrX:g.148582520G>T
Revel Score:
ENST00000340855 (MANE Select) 0.711
ENST00000370441 0.711
ENST00000370443 0.711
gnomAD v2:
X:148582520 G / T
gnomAD v3:
X:149500989 G / T
gnomAD v4:
chrX-149500989-G-T
Joint Max Group AF 0.02421811 (AFR)
Genomes Max Group AF 0.02491664 (AFR)
Exomes Max Group AF 0.02241917 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500989G>T , CM000685.2:g.149500989G>T GRCh38
NC_000023.10:g.148582520G>T , CM000685.1:g.148582520G>T GRCh37
NC_000023.9:g.148390425G>T NCBI36
NG_011900.3:g.9346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.467C>A MANE Select ENSP00000339801.6:p.Pro156Gln
ENST00000651111.1:c.-167C>A ENSP00000498395.1:n.-167C>A
ENST00000340855.10:c.467C>A ENSP00000339801.6:p.Pro156Gln
ENST00000370441.8:c.467C>A ENSP00000359470.4:p.Pro156Gln
ENST00000422081.6:c.-167C>A ENSP00000477056.1:n.-167C>A
ENST00000441880.1:n.114-13891C>A
ENST00000464251.5:c.393C>A ENSP00000428980.1:n.393C>A
ENST00000466323.5:c.467C>A ENSP00000418264.1:p.Pro156Gln
ENST00000490775.5:n.126C>A
ENST00000523759.5:n.581C>A
NM_000202.6:c.467C>A NP_000193.1:p.Pro156Gln
NM_001166550.2:c.197C>A NP_001160022.1:p.Pro66Gln
NM_006123.4:c.467C>A NP_006114.1:p.Pro156Gln
NR_104128.1:n.684C>A
NM_000202.7:c.467C>A NP_000193.1:p.Pro156Gln
NM_001166550.3:c.197C>A NP_001160022.1:p.Pro66Gln
NM_000202.8:c.467C>A MANE Select NP_000193.1:p.Pro156Gln
NM_001166550.4:c.197C>A NP_001160022.1:p.Pro66Gln
NM_006123.5:c.467C>A NP_006114.1:p.Pro156Gln
NR_104128.2:n.636C>A
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