Canonical Allele Identifier: CA10537502
Community Standard Title: NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487005G>A , CM000685.2:g.149487005G>A GRCh38
NC_000023.10:g.148568536G>A , CM000685.1:g.148568536G>A GRCh37
NC_000023.9:g.148376441G>A NCBI36
NG_011900.3:g.23330C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000202.8:c.1100C>T MANE Select NP_000193.1:p.Thr367Met
ENST00000340855.11:c.1100C>T MANE Select ENSP00000339801.6:p.Thr367Met
NM_000202.6:c.1100C>T NP_000193.1:p.Thr367Met
NM_000202.7:c.1100C>T NP_000193.1:p.Thr367Met
NM_001166550.2:c.830C>T NP_001160022.1:p.Thr277Met
NM_001166550.3:c.830C>T NP_001160022.1:p.Thr277Met
NM_001166550.4:c.830C>T NP_001160022.1:p.Thr277Met
ENST00000340855.10:c.1100C>T ENSP00000339801.6:p.Thr367Met
ENST00000422081.6:c.467C>T ENSP00000477056.1:p.Thr156Met
ENST00000441880.1:n.207C>T
ENST00000651111.1:c.467C>T ENSP00000498395.1:p.Thr156Met