Canonical Allele Identifier: CA414519799

Gene: IDS

Linked Data

• ClinVar Variation Id: 2099265
• ClinVar RCV Id: RCV003021633
• MyVariant Identifiers: chrX:g.148571844C>G (hg19) ; chrX:g.149490313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490313C>G , CM000685.2:g.149490313C>G	GRCh38
NC_000023.10:g.148571844C>G , CM000685.1:g.148571844C>G	GRCh37
NC_000023.9:g.148379749C>G	NCBI36
NG_011900.3:g.20022G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1006+1G>C MANE Select	ENSP00000339801.6:n.1006+1G>C
ENST00000651111.1:c.373+1G>C	ENSP00000498395.1:n.373+1G>C
ENST00000340855.10:c.1006+1G>C	ENSP00000339801.6:n.1006+1G>C
ENST00000370441.8:c.1006+1G>C	ENSP00000359470.4:n.1006+1G>C
ENST00000422081.6:c.373+1G>C	ENSP00000477056.1:n.373+1G>C
ENST00000441880.1:n.114-3215G>C
ENST00000464251.5:c.932+1G>C	ENSP00000428980.1:n.932+1G>C
ENST00000466323.5:c.*197+1G>C	ENSP00000418264.1:n.*197+1G>C
ENST00000490775.5:n.791+1G>C
NM_000202.6:c.1006+1G>C	NP_000193.1:n.1006+1G>C
NM_001166550.2:c.736+1G>C	NP_001160022.1:n.736+1G>C
NM_006123.4:c.1006+1G>C	NP_006114.1:n.1006+1G>C
NR_104128.1:n.1353+1G>C
NM_000202.7:c.1006+1G>C	NP_000193.1:n.1006+1G>C
NM_001166550.3:c.736+1G>C	NP_001160022.1:n.736+1G>C
NM_000202.8:c.1006+1G>C MANE Select	NP_000193.1:n.1006+1G>C
NM_001166550.4:c.736+1G>C	NP_001160022.1:n.736+1G>C
NM_006123.5:c.1006+1G>C	NP_006114.1:n.1006+1G>C
NR_104128.2:n.1305+1G>C