Canonical Allele Identifier: CA349692
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221219
ClinVar RCV Id: RCV000205544
dbSNP Id: rs113993952
MyVariant Identifiers: chrX:g.148585024T>A (hg19) chrX:g.149503494T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503494T>A , CM000685.2:g.149503494T>A GRCh38
NC_000023.10:g.148585024T>A , CM000685.1:g.148585024T>A GRCh37
NC_000023.9:g.148392929T>A NCBI36
NG_011900.3:g.6841A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.241-5A>T MANE Select ENSP00000339801.6:n.241-5A>T
ENST00000651111.1:c.-215-2457A>T ENSP00000498395.1:n.-215-2457A>T
ENST00000340855.10:c.241-5A>T ENSP00000339801.6:n.241-5A>T
ENST00000370441.8:c.241-5A>T ENSP00000359470.4:n.241-5A>T
ENST00000422081.6:c.-215-2457A>T ENSP00000477056.1:n.-215-2457A>T
ENST00000427113.2:n.770-1271A>T
ENST00000428056.6:c.241-5A>T ENSP00000390241.2:n.241-5A>T
ENST00000441880.1:n.114-16396A>T
ENST00000464251.5:c.64-5A>T ENSP00000428980.1:n.64-5A>T
ENST00000466323.5:c.241-5A>T ENSP00000418264.1:n.241-5A>T
ENST00000521702.1:c.241-5A>T ENSP00000429745.1:n.241-5A>T
ENST00000523759.5:n.533-2457A>T
NM_000202.6:c.241-5A>T NP_000193.1:n.241-5A>T
NM_001166550.2:c.15-49A>T NP_001160022.1:n.15-49A>T
NM_006123.4:c.241-5A>T NP_006114.1:n.241-5A>T
NR_104128.1:n.458-5A>T
NM_000202.7:c.241-5A>T NP_000193.1:n.241-5A>T
NM_001166550.3:c.15-49A>T NP_001160022.1:n.15-49A>T
NM_000202.8:c.241-5A>T MANE Select NP_000193.1:n.241-5A>T
NM_001166550.4:c.15-49A>T NP_001160022.1:n.15-49A>T
NM_006123.5:c.241-5A>T NP_006114.1:n.241-5A>T
NR_104128.2:n.410-5A>T
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