Canonical Allele Identifier: CA414525518

Gene: IDS

Linked Data

• COSMIC: COSM3843832 ; COSM3843833 ; COSM3843834 ; COSM3843835
• MyVariant Identifiers: chrX:g.148584847T>G (hg19) ; chrX:g.149503317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503317T>G , CM000685.2:g.149503317T>G	GRCh38
NC_000023.10:g.148584847T>G , CM000685.1:g.148584847T>G	GRCh37
NC_000023.9:g.148392752T>G	NCBI36
NG_011900.3:g.7018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.413A>C MANE Select	ENSP00000339801.6:p.His138Pro
ENST00000651111.1:c.-215-2280A>C	ENSP00000498395.1:n.-215-2280A>C
ENST00000340855.10:c.413A>C	ENSP00000339801.6:p.His138Pro
ENST00000370441.8:c.413A>C	ENSP00000359470.4:p.His138Pro
ENST00000422081.6:c.-215-2280A>C	ENSP00000477056.1:n.-215-2280A>C
ENST00000427113.2:n.770-1094A>C
ENST00000428056.6:c.413A>C	ENSP00000390241.2:p.His138Pro
ENST00000441880.1:n.114-16219A>C
ENST00000464251.5:c.236A>C	ENSP00000428980.1:p.His79Pro
ENST00000466323.5:c.413A>C	ENSP00000418264.1:p.His138Pro
ENST00000490775.5:n.72A>C
ENST00000523759.5:n.533-2280A>C
NM_000202.6:c.413A>C	NP_000193.1:p.His138Pro
NM_001166550.2:c.143A>C	NP_001160022.1:p.His48Pro
NM_006123.4:c.413A>C	NP_006114.1:p.His138Pro
NR_104128.1:n.630A>C
NM_000202.7:c.413A>C	NP_000193.1:p.His138Pro
NM_001166550.3:c.143A>C	NP_001160022.1:p.His48Pro
NM_000202.8:c.413A>C MANE Select	NP_000193.1:p.His138Pro
NM_001166550.4:c.143A>C	NP_001160022.1:p.His48Pro
NM_006123.5:c.413A>C	NP_006114.1:p.His138Pro
NR_104128.2:n.582A>C