Canonical Allele Identifier: CA414521908
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496422A>T , CM000685.2:g.149496422A>T GRCh38
NC_000023.10:g.148577953A>T , CM000685.1:g.148577953A>T GRCh37
NC_000023.9:g.148385858A>T NCBI36
NG_011900.3:g.13913T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.803T>A MANE Select ENSP00000339801.6:p.Met268Lys
ENST00000651111.1:c.170T>A ENSP00000498395.1:p.Met57Lys
ENST00000340855.10:c.803T>A ENSP00000339801.6:p.Met268Lys
ENST00000370441.8:c.803T>A ENSP00000359470.4:p.Met268Lys
ENST00000422081.6:c.170T>A ENSP00000477056.1:p.Met57Lys
ENST00000441880.1:n.114-9324T>A
ENST00000464251.5:c.729T>A ENSP00000428980.1:n.729T>A
ENST00000466019.1:n.255T>A
ENST00000466323.5:c.803T>A ENSP00000418264.1:p.Met268Lys
ENST00000490775.5:n.588T>A
NM_000202.6:c.803T>A NP_000193.1:p.Met268Lys
NM_001166550.2:c.533T>A NP_001160022.1:p.Met178Lys
NM_006123.4:c.803T>A NP_006114.1:p.Met268Lys
NR_104128.1:n.1020T>A
NM_000202.7:c.803T>A NP_000193.1:p.Met268Lys
NM_001166550.3:c.533T>A NP_001160022.1:p.Met178Lys
NM_000202.8:c.803T>A MANE Select NP_000193.1:p.Met268Lys
NM_001166550.4:c.533T>A NP_001160022.1:p.Met178Lys
NM_006123.5:c.803T>A NP_006114.1:p.Met268Lys
NR_104128.2:n.972T>A