Canonical Allele Identifier: CA2465004139
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs1602726327
gnomAD v4: X-149483368-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483368C>T , CM000685.2:g.149483368C>T GRCh38
NC_000023.10:g.148564899C>T , CM000685.1:g.148564899C>T GRCh37
NC_000023.9:g.148372804C>T NCBI36
NG_011900.3:g.26967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1181-150G>A MANE Select ENSP00000339801.6:n.1181-150G>A
ENST00000651111.1:c.548-150G>A ENSP00000498395.1:n.548-150G>A
ENST00000340855.10:c.1181-150G>A ENSP00000339801.6:n.1181-150G>A
ENST00000422081.6:c.548-150G>A ENSP00000477056.1:n.548-150G>A
ENST00000441880.1:n.288-150G>A
NM_000202.6:c.1181-150G>A NP_000193.1:n.1181-150G>A
NM_001166550.2:c.911-150G>A NP_001160022.1:n.911-150G>A
NM_000202.7:c.1181-150G>A NP_000193.1:n.1181-150G>A
NM_001166550.3:c.911-150G>A NP_001160022.1:n.911-150G>A
NM_000202.8:c.1181-150G>A MANE Select NP_000193.1:n.1181-150G>A
NM_001166550.4:c.911-150G>A NP_001160022.1:n.911-150G>A
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