Canonical Allele Identifier: CA414520240

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571919A>G (hg19) ; chrX:g.149490388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490388A>G , CM000685.2:g.149490388A>G	GRCh38
NC_000023.10:g.148571919A>G , CM000685.1:g.148571919A>G	GRCh37
NC_000023.9:g.148379824A>G	NCBI36
NG_011900.3:g.19947T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.932T>C MANE Select	ENSP00000339801.6:p.Val311Ala
ENST00000651111.1:c.299T>C	ENSP00000498395.1:p.Val100Ala
ENST00000340855.10:c.932T>C	ENSP00000339801.6:p.Val311Ala
ENST00000370441.8:c.932T>C	ENSP00000359470.4:p.Val311Ala
ENST00000422081.6:c.299T>C	ENSP00000477056.1:p.Val100Ala
ENST00000441880.1:n.114-3290T>C
ENST00000464251.5:c.858T>C	ENSP00000428980.1:n.858T>C
ENST00000466323.5:c.*123T>C	ENSP00000418264.1:n.*123T>C
ENST00000490775.5:n.717T>C
NM_000202.6:c.932T>C	NP_000193.1:p.Val311Ala
NM_001166550.2:c.662T>C	NP_001160022.1:p.Val221Ala
NM_006123.4:c.932T>C	NP_006114.1:p.Val311Ala
NR_104128.1:n.1279T>C
NM_000202.7:c.932T>C	NP_000193.1:p.Val311Ala
NM_001166550.3:c.662T>C	NP_001160022.1:p.Val221Ala
NM_000202.8:c.932T>C MANE Select	NP_000193.1:p.Val311Ala
NM_001166550.4:c.662T>C	NP_001160022.1:p.Val221Ala
NM_006123.5:c.932T>C	NP_006114.1:p.Val311Ala
NR_104128.2:n.1231T>C