Canonical Allele Identifier: CA356490
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs104894862
MyVariant Identifiers: chrX:g.148564466C>A (hg19) chrX:g.149482935C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482935C>A , CM000685.2:g.149482935C>A GRCh38
NC_000023.10:g.148564466C>A , CM000685.1:g.148564466C>A GRCh37
NC_000023.9:g.148372371C>A NCBI36
NG_011900.3:g.27400G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1464G>T MANE Select ENSP00000339801.6:p.Met488Ile
ENST00000651111.1:c.831G>T ENSP00000498395.1:p.Met277Ile
ENST00000340855.10:c.1464G>T ENSP00000339801.6:p.Met488Ile
ENST00000422081.6:c.831G>T ENSP00000477056.1:p.Met277Ile
NM_000202.6:c.1464G>T NP_000193.1:p.Met488Ile
NM_001166550.2:c.1194G>T NP_001160022.1:p.Met398Ile
NM_000202.7:c.1464G>T NP_000193.1:p.Met488Ile
NM_001166550.3:c.1194G>T NP_001160022.1:p.Met398Ile
NM_000202.8:c.1464G>T MANE Select NP_000193.1:p.Met488Ile
NM_001166550.4:c.1194G>T NP_001160022.1:p.Met398Ile
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