Canonical Allele Identifier: CA247947
Gene: IDS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.149483172C>T
GRCh37 chrX:g.148564703C>T
gnomAD v2:
X:148564703 C / T
gnomAD v3:
X:149483172 C / T
gnomAD v4:
chrX-149483172-C-T
Joint Max Group AF 0.00008755 (NFE)
Genomes Max Group AF 0.0000852 (AFR)
Exomes Max Group AF 0.00009074 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483172C>T , CM000685.2:g.149483172C>T GRCh38
NC_000023.10:g.148564703C>T , CM000685.1:g.148564703C>T GRCh37
NC_000023.9:g.148372608C>T NCBI36
NG_011900.3:g.27163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1227G>A MANE Select ENSP00000339801.6:p.Thr409=
ENST00000651111.1:c.594G>A ENSP00000498395.1:p.Thr198=
ENST00000340855.10:c.1227G>A ENSP00000339801.6:p.Thr409=
ENST00000422081.6:c.594G>A ENSP00000477056.1:p.Thr198=
ENST00000441880.1:n.334G>A
NM_000202.6:c.1227G>A NP_000193.1:p.Thr409=
NM_001166550.2:c.957G>A NP_001160022.1:p.Thr319=
NM_000202.7:c.1227G>A NP_000193.1:p.Thr409=
NM_001166550.3:c.957G>A NP_001160022.1:p.Thr319=
NM_000202.8:c.1227G>A MANE Select NP_000193.1:p.Thr409=
NM_001166550.4:c.957G>A NP_001160022.1:p.Thr319=
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