Canonical Allele Identifier: CA356679

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[149482996C>T;149483005T>A] , CM000685.2:g.[149482996C>T;149483005T>A]	GRCh38
NC_000023.10:g.[148564527C>T;148564536T>A] , CM000685.1:g.[148564527C>T;148564536T>A]	GRCh37
NC_000023.9:g.[148372432C>T;148372441T>A]	NCBI36
NG_011900.3:g.[27330A>T;27339G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.[1394A>T;1403G>A] MANE Select	ENSP00000339801.6:p.[Gln465Leu;Arg468Gln]
ENST00000651111.1:c.[761A>T;770G>A]	ENSP00000498395.1:p.[Gln254Leu;Arg257Gln]
ENST00000340855.10:c.[1394A>T;1403G>A]	ENSP00000339801.6:p.[Gln465Leu;Arg468Gln]
ENST00000422081.6:c.[761A>T;770G>A]	ENSP00000477056.1:p.[Gln254Leu;Arg257Gln]
NM_000202.6:c.[1394A>T;1403G>A]	NP_000193.1:p.[Gln465Leu;Arg468Gln]
NM_001166550.2:c.[1124A>T;1133G>A]	NP_001160022.1:p.[Gln375Leu;Arg378Gln]
NM_000202.7:c.[1394A>T;1403G>A]	NP_000193.1:p.[Gln465Leu;Arg468Gln]
NM_001166550.3:c.[1124A>T;1133G>A]	NP_001160022.1:p.[Gln375Leu;Arg378Gln]
NM_000202.8:c.[1394A>T;1403G>A] MANE Select	NP_000193.1:p.[Gln465Leu;Arg468Gln]
NM_001166550.4:c.[1124A>T;1133G>A]	NP_001160022.1:p.[Gln375Leu;Arg378Gln]