Canonical Allele Identifier: CA16013929
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs530501
gnomAD v2: X-148567451-C-T
gnomAD v3: X-149485920-C-T
gnomAD v4: X-149485920-C-T
MyVariant Identifiers: chrX:g.148567451C>T (hg19) chrX:g.149485920C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149485920C>T , CM000685.2:g.149485920C>T GRCh38
NC_000023.10:g.148567451C>T , CM000685.1:g.148567451C>T GRCh37
NG_011900.3:g.24415G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1180+1005G>A MANE Select ENSP00000339801.6:n.1180+1005G>A
ENST00000651111.1:c.547+1005G>A ENSP00000498395.1:n.547+1005G>A
ENST00000340855.10:c.1180+1005G>A ENSP00000339801.6:n.1180+1005G>A
ENST00000422081.6:c.547+1005G>A ENSP00000477056.1:n.547+1005G>A
ENST00000441880.1:n.287+1005G>A
NM_000202.6:c.1180+1005G>A NP_000193.1:n.1180+1005G>A
NM_001166550.2:c.910+1005G>A NP_001160022.1:n.910+1005G>A
NM_000202.7:c.1180+1005G>A NP_000193.1:n.1180+1005G>A
NM_001166550.3:c.910+1005G>A NP_001160022.1:n.910+1005G>A
NM_000202.8:c.1180+1005G>A MANE Select NP_000193.1:n.1180+1005G>A
NM_001166550.4:c.910+1005G>A NP_001160022.1:n.910+1005G>A
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