Canonical Allele Identifier: CA10537460
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2140647
ClinVar RCV Id: RCV003056553
dbSNP Id: rs782371096

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483065C>T , CM000685.2:g.149483065C>T GRCh38
NC_000023.10:g.148564596C>T , CM000685.1:g.148564596C>T GRCh37
NC_000023.9:g.148372501C>T NCBI36
NG_011900.3:g.27270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1334G>A MANE Select ENSP00000339801.6:p.Arg445His
ENST00000651111.1:c.701G>A ENSP00000498395.1:p.Arg234His
ENST00000340855.10:c.1334G>A ENSP00000339801.6:p.Arg445His
ENST00000422081.6:c.701G>A ENSP00000477056.1:p.Arg234His
NM_000202.6:c.1334G>A NP_000193.1:p.Arg445His
NM_001166550.2:c.1064G>A NP_001160022.1:p.Arg355His
NM_000202.7:c.1334G>A NP_000193.1:p.Arg445His
NM_001166550.3:c.1064G>A NP_001160022.1:p.Arg355His
NM_000202.8:c.1334G>A MANE Select NP_000193.1:p.Arg445His
NM_001166550.4:c.1064G>A NP_001160022.1:p.Arg355His