Canonical Allele Identifier: CA414526516

Gene: IDS

Linked Data

• ClinVar Variation Id: 1342151
• ClinVar RCV Id: RCV001837738
• dbSNP Id: rs1557340261
• MyVariant Identifiers: chrX:g.148584955A>G (hg19) ; chrX:g.149503425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503425A>G , CM000685.2:g.149503425A>G	GRCh38
NC_000023.10:g.148584955A>G , CM000685.1:g.148584955A>G	GRCh37
NC_000023.9:g.148392860A>G	NCBI36
NG_011900.3:g.6910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.305T>C MANE Select	ENSP00000339801.6:p.Leu102Pro
ENST00000651111.1:c.-215-2388T>C	ENSP00000498395.1:n.-215-2388T>C
ENST00000340855.10:c.305T>C	ENSP00000339801.6:p.Leu102Pro
ENST00000370441.8:c.305T>C	ENSP00000359470.4:p.Leu102Pro
ENST00000422081.6:c.-215-2388T>C	ENSP00000477056.1:n.-215-2388T>C
ENST00000427113.2:n.770-1202T>C
ENST00000428056.6:c.305T>C	ENSP00000390241.2:p.Leu102Pro
ENST00000441880.1:n.114-16327T>C
ENST00000464251.5:c.128T>C	ENSP00000428980.1:p.Leu43Pro
ENST00000466323.5:c.305T>C	ENSP00000418264.1:p.Leu102Pro
ENST00000523759.5:n.533-2388T>C
NM_000202.6:c.305T>C	NP_000193.1:p.Leu102Pro
NM_001166550.2:c.35T>C	NP_001160022.1:p.Leu12Pro
NM_006123.4:c.305T>C	NP_006114.1:p.Leu102Pro
NR_104128.1:n.522T>C
NM_000202.7:c.305T>C	NP_000193.1:p.Leu102Pro
NM_001166550.3:c.35T>C	NP_001160022.1:p.Leu12Pro
NM_000202.8:c.305T>C MANE Select	NP_000193.1:p.Leu102Pro
NM_001166550.4:c.35T>C	NP_001160022.1:p.Leu12Pro
NM_006123.5:c.305T>C	NP_006114.1:p.Leu102Pro
NR_104128.2:n.474T>C