Canonical Allele Identifier: CA414518177
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483001A>C , CM000685.2:g.149483001A>C GRCh38
NC_000023.10:g.148564532A>C , CM000685.1:g.148564532A>C GRCh37
NC_000023.9:g.148372437A>C NCBI36
NG_011900.3:g.27334T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1398T>G MANE Select ENSP00000339801.6:p.Tyr466Ter
ENST00000651111.1:c.765T>G ENSP00000498395.1:p.Tyr255Ter
ENST00000340855.10:c.1398T>G ENSP00000339801.6:p.Tyr466Ter
ENST00000422081.6:c.765T>G ENSP00000477056.1:p.Tyr255Ter
NM_000202.6:c.1398T>G NP_000193.1:p.Tyr466Ter
NM_001166550.2:c.1128T>G NP_001160022.1:p.Tyr376Ter
NM_000202.7:c.1398T>G NP_000193.1:p.Tyr466Ter
NM_001166550.3:c.1128T>G NP_001160022.1:p.Tyr376Ter
NM_000202.8:c.1398T>G MANE Select NP_000193.1:p.Tyr466Ter
NM_001166550.4:c.1128T>G NP_001160022.1:p.Tyr376Ter