Canonical Allele Identifier: CA414519961
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490340G>A , CM000685.2:g.149490340G>A GRCh38
NC_000023.10:g.148571871G>A , CM000685.1:g.148571871G>A GRCh37
NC_000023.9:g.148379776G>A NCBI36
NG_011900.3:g.19995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.980C>T MANE Select ENSP00000339801.6:p.Thr327Ile
ENST00000651111.1:c.347C>T ENSP00000498395.1:p.Thr116Ile
ENST00000340855.10:c.980C>T ENSP00000339801.6:p.Thr327Ile
ENST00000370441.8:c.980C>T ENSP00000359470.4:p.Thr327Ile
ENST00000422081.6:c.347C>T ENSP00000477056.1:p.Thr116Ile
ENST00000441880.1:n.114-3242C>T
ENST00000464251.5:c.906C>T ENSP00000428980.1:n.906C>T
ENST00000466323.5:c.*171C>T ENSP00000418264.1:n.*171C>T
ENST00000490775.5:n.765C>T
NM_000202.6:c.980C>T NP_000193.1:p.Thr327Ile
NM_001166550.2:c.710C>T NP_001160022.1:p.Thr237Ile
NM_006123.4:c.980C>T NP_006114.1:p.Thr327Ile
NR_104128.1:n.1327C>T
NM_000202.7:c.980C>T NP_000193.1:p.Thr327Ile
NM_001166550.3:c.710C>T NP_001160022.1:p.Thr237Ile
NM_000202.8:c.980C>T MANE Select NP_000193.1:p.Thr327Ile
NM_001166550.4:c.710C>T NP_001160022.1:p.Thr237Ile
NM_006123.5:c.980C>T NP_006114.1:p.Thr327Ile
NR_104128.2:n.1279C>T