Canonical Allele Identifier: CA10537457
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2154158
ClinVar RCV Id: RCV003081645
dbSNP Id: rs369603623
ExAC: X:148564578 G / C
gnomAD v2: X-148564578-G-C
gnomAD v4: X-149483047-G-C
MyVariant Identifiers: chrX:g.148564578G>C (hg19) chrX:g.149483047G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483047G>C , CM000685.2:g.149483047G>C GRCh38
NC_000023.10:g.148564578G>C , CM000685.1:g.148564578G>C GRCh37
NC_000023.9:g.148372483G>C NCBI36
NG_011900.3:g.27288C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1352C>G MANE Select ENSP00000339801.6:p.Pro451Arg
ENST00000651111.1:c.719C>G ENSP00000498395.1:p.Pro240Arg
ENST00000340855.10:c.1352C>G ENSP00000339801.6:p.Pro451Arg
ENST00000422081.6:c.719C>G ENSP00000477056.1:p.Pro240Arg
NM_000202.6:c.1352C>G NP_000193.1:p.Pro451Arg
NM_001166550.2:c.1082C>G NP_001160022.1:p.Pro361Arg
NM_000202.7:c.1352C>G NP_000193.1:p.Pro451Arg
NM_001166550.3:c.1082C>G NP_001160022.1:p.Pro361Arg
NM_000202.8:c.1352C>G MANE Select NP_000193.1:p.Pro451Arg
NM_001166550.4:c.1082C>G NP_001160022.1:p.Pro361Arg
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