Canonical Allele Identifier: CA10537457

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483047G>C , CM000685.2:g.149483047G>C	GRCh38
NC_000023.10:g.148564578G>C , CM000685.1:g.148564578G>C	GRCh37
NC_000023.9:g.148372483G>C	NCBI36
NG_011900.3:g.27288C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000202.8:c.1352C>G MANE Select	NP_000193.1:p.Pro451Arg
ENST00000340855.11:c.1352C>G MANE Select	ENSP00000339801.6:p.Pro451Arg
NM_000202.6:c.1352C>G	NP_000193.1:p.Pro451Arg
NM_000202.7:c.1352C>G	NP_000193.1:p.Pro451Arg
NM_001166550.2:c.1082C>G	NP_001160022.1:p.Pro361Arg
NM_001166550.3:c.1082C>G	NP_001160022.1:p.Pro361Arg
NM_001166550.4:c.1082C>G	NP_001160022.1:p.Pro361Arg
ENST00000340855.10:c.1352C>G	ENSP00000339801.6:p.Pro451Arg
ENST00000422081.6:c.719C>G	ENSP00000477056.1:p.Pro240Arg
ENST00000651111.1:c.719C>G	ENSP00000498395.1:p.Pro240Arg