Canonical Allele Identifier: CA414518246

Gene: IDS

Linked Data

• ClinVar Variation Id: 2110886
• ClinVar RCV Id: RCV003045738
• MyVariant Identifiers: chrX:g.148564566C>A (hg19) ; chrX:g.149483035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483035C>A , CM000685.2:g.149483035C>A	GRCh38
NC_000023.10:g.148564566C>A , CM000685.1:g.148564566C>A	GRCh37
NC_000023.9:g.148372471C>A	NCBI36
NG_011900.3:g.27300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1364G>T MANE Select	ENSP00000339801.6:p.Gly455Val
ENST00000651111.1:c.731G>T	ENSP00000498395.1:p.Gly244Val
ENST00000340855.10:c.1364G>T	ENSP00000339801.6:p.Gly455Val
ENST00000422081.6:c.731G>T	ENSP00000477056.1:p.Gly244Val
NM_000202.6:c.1364G>T	NP_000193.1:p.Gly455Val
NM_001166550.2:c.1094G>T	NP_001160022.1:p.Gly365Val
NM_000202.7:c.1364G>T	NP_000193.1:p.Gly455Val
NM_001166550.3:c.1094G>T	NP_001160022.1:p.Gly365Val
NM_000202.8:c.1364G>T MANE Select	NP_000193.1:p.Gly455Val
NM_001166550.4:c.1094G>T	NP_001160022.1:p.Gly365Val