Canonical Allele Identifier: CA414526145
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503385G>C , CM000685.2:g.149503385G>C GRCh38
NC_000023.10:g.148584915G>C , CM000685.1:g.148584915G>C GRCh37
NC_000023.9:g.148392820G>C NCBI36
NG_011900.3:g.6950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.345C>G MANE Select ENSP00000339801.6:p.Asn115Lys
ENST00000651111.1:c.-215-2348C>G ENSP00000498395.1:n.-215-2348C>G
ENST00000340855.10:c.345C>G ENSP00000339801.6:p.Asn115Lys
ENST00000370441.8:c.345C>G ENSP00000359470.4:p.Asn115Lys
ENST00000422081.6:c.-215-2348C>G ENSP00000477056.1:n.-215-2348C>G
ENST00000427113.2:n.770-1162C>G
ENST00000428056.6:c.345C>G ENSP00000390241.2:p.Asn115Lys
ENST00000441880.1:n.114-16287C>G
ENST00000464251.5:c.168C>G ENSP00000428980.1:p.Asn56Lys
ENST00000466323.5:c.345C>G ENSP00000418264.1:p.Asn115Lys
ENST00000490775.5:n.4C>G
ENST00000523759.5:n.533-2348C>G
NM_000202.6:c.345C>G NP_000193.1:p.Asn115Lys
NM_001166550.2:c.75C>G NP_001160022.1:p.Asn25Lys
NM_006123.4:c.345C>G NP_006114.1:p.Asn115Lys
NR_104128.1:n.562C>G
NM_000202.7:c.345C>G NP_000193.1:p.Asn115Lys
NM_001166550.3:c.75C>G NP_001160022.1:p.Asn25Lys
NM_000202.8:c.345C>G MANE Select NP_000193.1:p.Asn115Lys
NM_001166550.4:c.75C>G NP_001160022.1:p.Asn25Lys
NM_006123.5:c.345C>G NP_006114.1:p.Asn115Lys
NR_104128.2:n.514C>G