Canonical Allele Identifier: CA2465004020
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483027G= , CM000685.2:g.149483027G= GRCh38
NC_000023.10:g.148564558G= , CM000685.1:g.148564558G= GRCh37
NC_000023.9:g.148372463G= NCBI36
NG_011900.3:g.27308C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1372C= MANE Select ENSP00000339801.6:p.Arg458=
ENST00000651111.1:c.739C= ENSP00000498395.1:p.Arg247=
ENST00000340855.10:c.1372C= ENSP00000339801.6:p.Arg458=
ENST00000422081.6:c.739C= ENSP00000477056.1:p.Arg247=
NM_000202.6:c.1372C= NP_000193.1:p.Arg458=
NM_001166550.2:c.1102C= NP_001160022.1:p.Arg368=
NM_000202.7:c.1372C= NP_000193.1:p.Arg458=
NM_001166550.3:c.1102C= NP_001160022.1:p.Arg368=
NM_000202.8:c.1372C= MANE Select NP_000193.1:p.Arg458=
NM_001166550.4:c.1102C= NP_001160022.1:p.Arg368=