Canonical Allele Identifier: CA414519943
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490336G>C , CM000685.2:g.149490336G>C GRCh38
NC_000023.10:g.148571867G>C , CM000685.1:g.148571867G>C GRCh37
NC_000023.9:g.148379772G>C NCBI36
NG_011900.3:g.19999C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.984C>G MANE Select ENSP00000339801.6:p.Ile328Met
ENST00000651111.1:c.351C>G ENSP00000498395.1:p.Ile117Met
ENST00000340855.10:c.984C>G ENSP00000339801.6:p.Ile328Met
ENST00000370441.8:c.984C>G ENSP00000359470.4:p.Ile328Met
ENST00000422081.6:c.351C>G ENSP00000477056.1:p.Ile117Met
ENST00000441880.1:n.114-3238C>G
ENST00000464251.5:c.910C>G ENSP00000428980.1:n.910C>G
ENST00000466323.5:c.*175C>G ENSP00000418264.1:n.*175C>G
ENST00000490775.5:n.769C>G
NM_000202.6:c.984C>G NP_000193.1:p.Ile328Met
NM_001166550.2:c.714C>G NP_001160022.1:p.Ile238Met
NM_006123.4:c.984C>G NP_006114.1:p.Ile328Met
NR_104128.1:n.1331C>G
NM_000202.7:c.984C>G NP_000193.1:p.Ile328Met
NM_001166550.3:c.714C>G NP_001160022.1:p.Ile238Met
NM_000202.8:c.984C>G MANE Select NP_000193.1:p.Ile328Met
NM_001166550.4:c.714C>G NP_001160022.1:p.Ile238Met
NM_006123.5:c.984C>G NP_006114.1:p.Ile328Met
NR_104128.2:n.1283C>G