Canonical Allele Identifier: CA414522561
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498288C>A , CM000685.2:g.149498288C>A GRCh38
NC_000023.10:g.148579819C>A , CM000685.1:g.148579819C>A GRCh37
NC_000023.9:g.148387724C>A NCBI36
NG_011900.3:g.12047G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.527G>T MANE Select ENSP00000339801.6:p.Gly176Val
ENST00000651111.1:c.-107G>T ENSP00000498395.1:n.-107G>T
ENST00000340855.10:c.527G>T ENSP00000339801.6:p.Gly176Val
ENST00000370441.8:c.527G>T ENSP00000359470.4:p.Gly176Val
ENST00000422081.6:c.-107G>T ENSP00000477056.1:n.-107G>T
ENST00000441880.1:n.114-11190G>T
ENST00000464251.5:c.453G>T ENSP00000428980.1:n.453G>T
ENST00000466323.5:c.527G>T ENSP00000418264.1:p.Gly176Val
ENST00000490775.5:n.312G>T
ENST00000523759.5:n.641G>T
NM_000202.6:c.527G>T NP_000193.1:p.Gly176Val
NM_001166550.2:c.257G>T NP_001160022.1:p.Gly86Val
NM_006123.4:c.527G>T NP_006114.1:p.Gly176Val
NR_104128.1:n.744G>T
NM_000202.7:c.527G>T NP_000193.1:p.Gly176Val
NM_001166550.3:c.257G>T NP_001160022.1:p.Gly86Val
NM_000202.8:c.527G>T MANE Select NP_000193.1:p.Gly176Val
NM_001166550.4:c.257G>T NP_001160022.1:p.Gly86Val
NM_006123.5:c.527G>T NP_006114.1:p.Gly176Val
NR_104128.2:n.696G>T