Canonical Allele Identifier: CA2499306187

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[149482981G>A;149482988C>G] , CM000685.2:g.[149482981G>A;149482988C>G]	GRCh38
NC_000023.10:g.[148564512G>A;148564519C>G] , CM000685.1:g.[148564512G>A;148564519C>G]	GRCh37
NC_000023.9:g.[148372417G>A;148372424C>G]	NCBI36
NG_011900.3:g.[27347G>C;27354C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.[1411G>C;1418C>T] MANE Select	ENSP00000339801.6:p.[Asp471His;Pro473Leu]
ENST00000651111.1:c.[778G>C;785C>T]	ENSP00000498395.1:p.[Asp260His;Pro262Leu]
ENST00000340855.10:c.[1411G>C;1418C>T]	ENSP00000339801.6:p.[Asp471His;Pro473Leu]
ENST00000422081.6:c.[778G>C;785C>T]	ENSP00000477056.1:p.[Asp260His;Pro262Leu]
NM_000202.6:c.[1411G>C;1418C>T]	NP_000193.1:p.[Asp471His;Pro473Leu]
NM_001166550.2:c.[1141G>C;1148C>T]	NP_001160022.1:p.[Asp381His;Pro383Leu]
NM_000202.7:c.[1411G>C;1418C>T]	NP_000193.1:p.[Asp471His;Pro473Leu]
NM_001166550.3:c.[1141G>C;1148C>T]	NP_001160022.1:p.[Asp381His;Pro383Leu]
NM_000202.8:c.[1411G>C;1418C>T] MANE Select	NP_000193.1:p.[Asp471His;Pro473Leu]
NM_001166550.4:c.[1141G>C;1148C>T]	NP_001160022.1:p.[Asp381His;Pro383Leu]