Canonical Allele Identifier: CA414519968

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571872T>C (hg19) ; chrX:g.149490341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490341T>C , CM000685.2:g.149490341T>C	GRCh38
NC_000023.10:g.148571872T>C , CM000685.1:g.148571872T>C	GRCh37
NC_000023.9:g.148379777T>C	NCBI36
NG_011900.3:g.19994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.979A>G MANE Select	ENSP00000339801.6:p.Thr327Ala
ENST00000651111.1:c.346A>G	ENSP00000498395.1:p.Thr116Ala
ENST00000340855.10:c.979A>G	ENSP00000339801.6:p.Thr327Ala
ENST00000370441.8:c.979A>G	ENSP00000359470.4:p.Thr327Ala
ENST00000422081.6:c.346A>G	ENSP00000477056.1:p.Thr116Ala
ENST00000441880.1:n.114-3243A>G
ENST00000464251.5:c.905A>G	ENSP00000428980.1:n.905A>G
ENST00000466323.5:c.*170A>G	ENSP00000418264.1:n.*170A>G
ENST00000490775.5:n.764A>G
NM_000202.6:c.979A>G	NP_000193.1:p.Thr327Ala
NM_001166550.2:c.709A>G	NP_001160022.1:p.Thr237Ala
NM_006123.4:c.979A>G	NP_006114.1:p.Thr327Ala
NR_104128.1:n.1326A>G
NM_000202.7:c.979A>G	NP_000193.1:p.Thr327Ala
NM_001166550.3:c.709A>G	NP_001160022.1:p.Thr237Ala
NM_000202.8:c.979A>G MANE Select	NP_000193.1:p.Thr327Ala
NM_001166550.4:c.709A>G	NP_001160022.1:p.Thr237Ala
NM_006123.5:c.979A>G	NP_006114.1:p.Thr327Ala
NR_104128.2:n.1278A>G