Canonical Allele Identifier: CA414517758
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148564345G>C (hg19) chrX:g.149482814G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482814G>C , CM000685.2:g.149482814G>C GRCh38
NC_000023.10:g.148564345G>C , CM000685.1:g.148564345G>C GRCh37
NC_000023.9:g.148372250G>C NCBI36
NG_011900.3:g.27521C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1585C>G MANE Select ENSP00000339801.6:p.Pro529Ala
ENST00000651111.1:c.952C>G ENSP00000498395.1:p.Pro318Ala
ENST00000340855.10:c.1585C>G ENSP00000339801.6:p.Pro529Ala
ENST00000422081.6:c.952C>G ENSP00000477056.1:p.Pro318Ala
NM_000202.6:c.1585C>G NP_000193.1:p.Pro529Ala
NM_001166550.2:c.1315C>G NP_001160022.1:p.Pro439Ala
NM_000202.7:c.1585C>G NP_000193.1:p.Pro529Ala
NM_001166550.3:c.1315C>G NP_001160022.1:p.Pro439Ala
NM_000202.8:c.1585C>G MANE Select NP_000193.1:p.Pro529Ala
NM_001166550.4:c.1315C>G NP_001160022.1:p.Pro439Ala
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