Canonical Allele Identifier: CA414522161

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498123G>A , CM000685.2:g.149498123G>A	GRCh38
NC_000023.10:g.148579654G>A , CM000685.1:g.148579654G>A	GRCh37
NC_000023.9:g.148387559G>A	NCBI36
NG_011900.3:g.12212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000202.8:c.692C>T MANE Select	NP_000193.1:p.Pro231Leu
ENST00000340855.11:c.692C>T MANE Select	ENSP00000339801.6:p.Pro231Leu
NM_000202.6:c.692C>T	NP_000193.1:p.Pro231Leu
NM_000202.7:c.692C>T	NP_000193.1:p.Pro231Leu
NM_001166550.2:c.422C>T	NP_001160022.1:p.Pro141Leu
NM_001166550.3:c.422C>T	NP_001160022.1:p.Pro141Leu
NM_001166550.4:c.422C>T	NP_001160022.1:p.Pro141Leu
NM_006123.4:c.692C>T	NP_006114.1:p.Pro231Leu
NM_006123.5:c.692C>T	NP_006114.1:p.Pro231Leu
NR_104128.1:n.909C>T
NR_104128.2:n.861C>T
ENST00000340855.10:c.692C>T	ENSP00000339801.6:p.Pro231Leu
ENST00000370441.8:c.692C>T	ENSP00000359470.4:p.Pro231Leu
ENST00000422081.6:c.59C>T	ENSP00000477056.1:p.Pro20Leu
ENST00000441880.1:n.114-11025C>T
ENST00000464251.5:c.618C>T	ENSP00000428980.1:n.618C>T
ENST00000466019.1:n.144C>T
ENST00000466323.5:c.692C>T	ENSP00000418264.1:p.Pro231Leu
ENST00000490775.5:n.477C>T
ENST00000651111.1:c.59C>T	ENSP00000498395.1:p.Pro20Leu