Canonical Allele Identifier: CA414523188
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149501008G>C , CM000685.2:g.149501008G>C GRCh38
NC_000023.10:g.148582539G>C , CM000685.1:g.148582539G>C GRCh37
NC_000023.9:g.148390444G>C NCBI36
NG_011900.3:g.9327C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.448C>G MANE Select ENSP00000339801.6:p.Pro150Ala
ENST00000651111.1:c.-186C>G ENSP00000498395.1:n.-186C>G
ENST00000340855.10:c.448C>G ENSP00000339801.6:p.Pro150Ala
ENST00000370441.8:c.448C>G ENSP00000359470.4:p.Pro150Ala
ENST00000422081.6:c.-186C>G ENSP00000477056.1:n.-186C>G
ENST00000441880.1:n.114-13910C>G
ENST00000464251.5:c.374C>G ENSP00000428980.1:n.374C>G
ENST00000466323.5:c.448C>G ENSP00000418264.1:p.Pro150Ala
ENST00000490775.5:n.107C>G
ENST00000523759.5:n.562C>G
NM_000202.6:c.448C>G NP_000193.1:p.Pro150Ala
NM_001166550.2:c.178C>G NP_001160022.1:p.Pro60Ala
NM_006123.4:c.448C>G NP_006114.1:p.Pro150Ala
NR_104128.1:n.665C>G
NM_000202.7:c.448C>G NP_000193.1:p.Pro150Ala
NM_001166550.3:c.178C>G NP_001160022.1:p.Pro60Ala
NM_000202.8:c.448C>G MANE Select NP_000193.1:p.Pro150Ala
NM_001166550.4:c.178C>G NP_001160022.1:p.Pro60Ala
NM_006123.5:c.448C>G NP_006114.1:p.Pro150Ala
NR_104128.2:n.617C>G