Canonical Allele Identifier: CA247947

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483172C>T , CM000685.2:g.149483172C>T	GRCh38
NC_000023.10:g.148564703C>T , CM000685.1:g.148564703C>T	GRCh37
NC_000023.9:g.148372608C>T	NCBI36
NG_011900.3:g.27163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1227G>A MANE Select	ENSP00000339801.6:p.Thr409=
ENST00000651111.1:c.594G>A	ENSP00000498395.1:p.Thr198=
ENST00000340855.10:c.1227G>A	ENSP00000339801.6:p.Thr409=
ENST00000422081.6:c.594G>A	ENSP00000477056.1:p.Thr198=
ENST00000441880.1:n.334G>A
NM_000202.6:c.1227G>A	NP_000193.1:p.Thr409=
NM_001166550.2:c.957G>A	NP_001160022.1:p.Thr319=
NM_000202.7:c.1227G>A	NP_000193.1:p.Thr409=
NM_001166550.3:c.957G>A	NP_001160022.1:p.Thr319=
NM_000202.8:c.1227G>A MANE Select	NP_000193.1:p.Thr409=
NM_001166550.4:c.957G>A	NP_001160022.1:p.Thr319=