Canonical Allele Identifier: CA356492

Gene: IDS

Linked Data

• PubMed: PMID:12794697

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[149482933C>G;149482935C>A] , CM000685.2:g.[149482933C>G;149482935C>A]	GRCh38
NC_000023.10:g.[148564464C>G;148564466C>A] , CM000685.1:g.[148564464C>G;148564466C>A]	GRCh37
NC_000023.9:g.[148372369C>G;148372371C>A]	NCBI36
NG_011900.3:g.[27400G>T;27402G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.[1464G>T;1466G>C] MANE Select	ENSP00000339801.6:p.[Met488Ile;Gly489Ala]
ENST00000651111.1:c.[831G>T;833G>C]	ENSP00000498395.1:p.[Met277Ile;Gly278Ala]
ENST00000340855.10:c.[1464G>T;1466G>C]	ENSP00000339801.6:p.[Met488Ile;Gly489Ala]
ENST00000422081.6:c.[831G>T;833G>C]	ENSP00000477056.1:p.Met277_Gly278delinsIlePro
NM_000202.6:c.[1464G>T;1466G>C]	NP_000193.1:p.[Met488Ile;Gly489Ala]
NM_001166550.2:c.[1194G>T;1196G>C]	NP_001160022.1:p.Met398_Gly399delinsIleAla
NM_000202.7:c.[1464G>T;1466G>C]	NP_000193.1:p.[Met488Ile;Gly489Ala]
NM_001166550.3:c.[1194G>T;1196G>C]	NP_001160022.1:p.Met398_Gly399delinsIleAla
NM_000202.8:c.[1464G>T;1466G>C] MANE Select	NP_000193.1:p.[Met488Ile;Gly489Ala]
NM_001166550.4:c.[1194G>T;1196G>C]	NP_001160022.1:p.Met398_Gly399delinsIleAla