Canonical Allele Identifier: CA414520389
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490413A>G , CM000685.2:g.149490413A>G GRCh38
NC_000023.10:g.148571944A>G , CM000685.1:g.148571944A>G GRCh37
NC_000023.9:g.148379849A>G NCBI36
NG_011900.3:g.19922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.907T>C MANE Select ENSP00000339801.6:p.Ser303Pro
ENST00000651111.1:c.274T>C ENSP00000498395.1:p.Ser92Pro
ENST00000340855.10:c.907T>C ENSP00000339801.6:p.Ser303Pro
ENST00000370441.8:c.907T>C ENSP00000359470.4:p.Ser303Pro
ENST00000422081.6:c.274T>C ENSP00000477056.1:p.Ser92Pro
ENST00000441880.1:n.114-3315T>C
ENST00000464251.5:c.833T>C ENSP00000428980.1:n.833T>C
ENST00000466323.5:c.*98T>C ENSP00000418264.1:n.*98T>C
ENST00000490775.5:n.692T>C
NM_000202.6:c.907T>C NP_000193.1:p.Ser303Pro
NM_001166550.2:c.637T>C NP_001160022.1:p.Ser213Pro
NM_006123.4:c.907T>C NP_006114.1:p.Ser303Pro
NR_104128.1:n.1254T>C
NM_000202.7:c.907T>C NP_000193.1:p.Ser303Pro
NM_001166550.3:c.637T>C NP_001160022.1:p.Ser213Pro
NM_000202.8:c.907T>C MANE Select NP_000193.1:p.Ser303Pro
NM_001166550.4:c.637T>C NP_001160022.1:p.Ser213Pro
NM_006123.5:c.907T>C NP_006114.1:p.Ser303Pro
NR_104128.2:n.1206T>C