Canonical Allele Identifier: CA414520149

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571902C>G (hg19) ; chrX:g.149490371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490371C>G , CM000685.2:g.149490371C>G	GRCh38
NC_000023.10:g.148571902C>G , CM000685.1:g.148571902C>G	GRCh37
NC_000023.9:g.148379807C>G	NCBI36
NG_011900.3:g.19964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.949G>C MANE Select	ENSP00000339801.6:p.Ala317Pro
ENST00000651111.1:c.316G>C	ENSP00000498395.1:p.Ala106Pro
ENST00000340855.10:c.949G>C	ENSP00000339801.6:p.Ala317Pro
ENST00000370441.8:c.949G>C	ENSP00000359470.4:p.Ala317Pro
ENST00000422081.6:c.316G>C	ENSP00000477056.1:p.Ala106Pro
ENST00000441880.1:n.114-3273G>C
ENST00000464251.5:c.875G>C	ENSP00000428980.1:n.875G>C
ENST00000466323.5:c.*140G>C	ENSP00000418264.1:n.*140G>C
ENST00000490775.5:n.734G>C
NM_000202.6:c.949G>C	NP_000193.1:p.Ala317Pro
NM_001166550.2:c.679G>C	NP_001160022.1:p.Ala227Pro
NM_006123.4:c.949G>C	NP_006114.1:p.Ala317Pro
NR_104128.1:n.1296G>C
NM_000202.7:c.949G>C	NP_000193.1:p.Ala317Pro
NM_001166550.3:c.679G>C	NP_001160022.1:p.Ala227Pro
NM_000202.8:c.949G>C MANE Select	NP_000193.1:p.Ala317Pro
NM_001166550.4:c.679G>C	NP_001160022.1:p.Ala227Pro
NM_006123.5:c.949G>C	NP_006114.1:p.Ala317Pro
NR_104128.2:n.1248G>C