Canonical Allele Identifier: CA10537598

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496444G>C , CM000685.2:g.149496444G>C	GRCh38
NC_000023.10:g.148577975G>C , CM000685.1:g.148577975G>C	GRCh37
NC_000023.9:g.148385880G>C	NCBI36
NG_011900.3:g.13891C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000202.8:c.781C>G MANE Select	NP_000193.1:p.Pro261Ala
ENST00000340855.11:c.781C>G MANE Select	ENSP00000339801.6:p.Pro261Ala
NM_000202.6:c.781C>G	NP_000193.1:p.Pro261Ala
NM_000202.7:c.781C>G	NP_000193.1:p.Pro261Ala
NM_001166550.2:c.511C>G	NP_001160022.1:p.Pro171Ala
NM_001166550.3:c.511C>G	NP_001160022.1:p.Pro171Ala
NM_001166550.4:c.511C>G	NP_001160022.1:p.Pro171Ala
NM_006123.4:c.781C>G	NP_006114.1:p.Pro261Ala
NM_006123.5:c.781C>G	NP_006114.1:p.Pro261Ala
NR_104128.1:n.998C>G
NR_104128.2:n.950C>G
ENST00000340855.10:c.781C>G	ENSP00000339801.6:p.Pro261Ala
ENST00000370441.8:c.781C>G	ENSP00000359470.4:p.Pro261Ala
ENST00000422081.6:c.148C>G	ENSP00000477056.1:p.Pro50Ala
ENST00000441880.1:n.114-9346C>G
ENST00000464251.5:c.707C>G	ENSP00000428980.1:n.707C>G
ENST00000466019.1:n.233C>G
ENST00000466323.5:c.781C>G	ENSP00000418264.1:p.Pro261Ala
ENST00000490775.5:n.566C>G
ENST00000651111.1:c.148C>G	ENSP00000498395.1:p.Pro50Ala