Canonical Allele Identifier: CA414519919
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490333A>C , CM000685.2:g.149490333A>C GRCh38
NC_000023.10:g.148571864A>C , CM000685.1:g.148571864A>C GRCh37
NC_000023.9:g.148379769A>C NCBI36
NG_011900.3:g.20002T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.987T>G MANE Select ENSP00000339801.6:p.Ile329Met
ENST00000651111.1:c.354T>G ENSP00000498395.1:p.Ile118Met
ENST00000340855.10:c.987T>G ENSP00000339801.6:p.Ile329Met
ENST00000370441.8:c.987T>G ENSP00000359470.4:p.Ile329Met
ENST00000422081.6:c.354T>G ENSP00000477056.1:p.Ile118Met
ENST00000441880.1:n.114-3235T>G
ENST00000464251.5:c.913T>G ENSP00000428980.1:n.913T>G
ENST00000466323.5:c.*178T>G ENSP00000418264.1:n.*178T>G
ENST00000490775.5:n.772T>G
NM_000202.6:c.987T>G NP_000193.1:p.Ile329Met
NM_001166550.2:c.717T>G NP_001160022.1:p.Ile239Met
NM_006123.4:c.987T>G NP_006114.1:p.Ile329Met
NR_104128.1:n.1334T>G
NM_000202.7:c.987T>G NP_000193.1:p.Ile329Met
NM_001166550.3:c.717T>G NP_001160022.1:p.Ile239Met
NM_000202.8:c.987T>G MANE Select NP_000193.1:p.Ile329Met
NM_001166550.4:c.717T>G NP_001160022.1:p.Ile239Met
NM_006123.5:c.987T>G NP_006114.1:p.Ile329Met
NR_104128.2:n.1286T>G