Canonical Allele Identifier: CA414526187
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503392G>C , CM000685.2:g.149503392G>C GRCh38
NC_000023.10:g.148584922G>C , CM000685.1:g.148584922G>C GRCh37
NC_000023.9:g.148392827G>C NCBI36
NG_011900.3:g.6943C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.338C>G MANE Select ENSP00000339801.6:p.Ala113Gly
ENST00000651111.1:c.-215-2355C>G ENSP00000498395.1:n.-215-2355C>G
ENST00000340855.10:c.338C>G ENSP00000339801.6:p.Ala113Gly
ENST00000370441.8:c.338C>G ENSP00000359470.4:p.Ala113Gly
ENST00000422081.6:c.-215-2355C>G ENSP00000477056.1:n.-215-2355C>G
ENST00000427113.2:n.770-1169C>G
ENST00000428056.6:c.338C>G ENSP00000390241.2:p.Ala113Gly
ENST00000441880.1:n.114-16294C>G
ENST00000464251.5:c.161C>G ENSP00000428980.1:p.Ala54Gly
ENST00000466323.5:c.338C>G ENSP00000418264.1:p.Ala113Gly
ENST00000523759.5:n.533-2355C>G
NM_000202.6:c.338C>G NP_000193.1:p.Ala113Gly
NM_001166550.2:c.68C>G NP_001160022.1:p.Ala23Gly
NM_006123.4:c.338C>G NP_006114.1:p.Ala113Gly
NR_104128.1:n.555C>G
NM_000202.7:c.338C>G NP_000193.1:p.Ala113Gly
NM_001166550.3:c.68C>G NP_001160022.1:p.Ala23Gly
NM_000202.8:c.338C>G MANE Select NP_000193.1:p.Ala113Gly
NM_001166550.4:c.68C>G NP_001160022.1:p.Ala23Gly
NM_006123.5:c.338C>G NP_006114.1:p.Ala113Gly
NR_104128.2:n.507C>G