Canonical Allele Identifier: CA414518050

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564474T>A (hg19) ; chrX:g.149482943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482943T>A , CM000685.2:g.149482943T>A	GRCh38
NC_000023.10:g.148564474T>A , CM000685.1:g.148564474T>A	GRCh37
NC_000023.9:g.148372379T>A	NCBI36
NG_011900.3:g.27392A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1456A>T MANE Select	ENSP00000339801.6:p.Lys486Ter
ENST00000651111.1:c.823A>T	ENSP00000498395.1:p.Lys275Ter
ENST00000340855.10:c.1456A>T	ENSP00000339801.6:p.Lys486Ter
ENST00000422081.6:c.823A>T	ENSP00000477056.1:p.Lys275Ter
NM_000202.6:c.1456A>T	NP_000193.1:p.Lys486Ter
NM_001166550.2:c.1186A>T	NP_001160022.1:p.Lys396Ter
NM_000202.7:c.1456A>T	NP_000193.1:p.Lys486Ter
NM_001166550.3:c.1186A>T	NP_001160022.1:p.Lys396Ter
NM_000202.8:c.1456A>T MANE Select	NP_000193.1:p.Lys486Ter
NM_001166550.4:c.1186A>T	NP_001160022.1:p.Lys396Ter