Canonical Allele Identifier: CA414518859

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568549C>A (hg19) ; chrX:g.149487018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487018C>A , CM000685.2:g.149487018C>A	GRCh38
NC_000023.10:g.148568549C>A , CM000685.1:g.148568549C>A	GRCh37
NC_000023.9:g.148376454C>A	NCBI36
NG_011900.3:g.23317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1087G>T MANE Select	ENSP00000339801.6:p.Val363Phe
ENST00000651111.1:c.454G>T	ENSP00000498395.1:p.Val152Phe
ENST00000340855.10:c.1087G>T	ENSP00000339801.6:p.Val363Phe
ENST00000422081.6:c.454G>T	ENSP00000477056.1:p.Val152Phe
ENST00000441880.1:n.194G>T
NM_000202.6:c.1087G>T	NP_000193.1:p.Val363Phe
NM_001166550.2:c.817G>T	NP_001160022.1:p.Val273Phe
NM_000202.7:c.1087G>T	NP_000193.1:p.Val363Phe
NM_001166550.3:c.817G>T	NP_001160022.1:p.Val273Phe
NM_000202.8:c.1087G>T MANE Select	NP_000193.1:p.Val363Phe
NM_001166550.4:c.817G>T	NP_001160022.1:p.Val273Phe