Canonical Allele Identifier: CA10537503
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1126548
ClinVar RCV Id: RCV001458633 RCV004038567
dbSNP Id: rs141037133
ExAC: X:148568551 T / C
gnomAD v2: X-148568551-T-C
gnomAD v3: X-149487020-T-C
gnomAD v4: X-149487020-T-C
MyVariant Identifiers: chrX:g.148568551T>C (hg19) chrX:g.149487020T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487020T>C , CM000685.2:g.149487020T>C GRCh38
NC_000023.10:g.148568551T>C , CM000685.1:g.148568551T>C GRCh37
NC_000023.9:g.148376456T>C NCBI36
NG_011900.3:g.23315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1085A>G MANE Select ENSP00000339801.6:p.Tyr362Cys
ENST00000651111.1:c.452A>G ENSP00000498395.1:p.Tyr151Cys
ENST00000340855.10:c.1085A>G ENSP00000339801.6:p.Tyr362Cys
ENST00000422081.6:c.452A>G ENSP00000477056.1:p.Tyr151Cys
ENST00000441880.1:n.192A>G
NM_000202.6:c.1085A>G NP_000193.1:p.Tyr362Cys
NM_001166550.2:c.815A>G NP_001160022.1:p.Tyr272Cys
NM_000202.7:c.1085A>G NP_000193.1:p.Tyr362Cys
NM_001166550.3:c.815A>G NP_001160022.1:p.Tyr272Cys
NM_000202.8:c.1085A>G MANE Select NP_000193.1:p.Tyr362Cys
NM_001166550.4:c.815A>G NP_001160022.1:p.Tyr272Cys
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