Canonical Allele Identifier: CA414525904

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148584888C>A (hg19) ; chrX:g.149503358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503358C>A , CM000685.2:g.149503358C>A	GRCh38
NC_000023.10:g.148584888C>A , CM000685.1:g.148584888C>A	GRCh37
NC_000023.9:g.148392793C>A	NCBI36
NG_011900.3:g.6977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.372G>T MANE Select	ENSP00000339801.6:p.Lys124Asn
ENST00000651111.1:c.-215-2321G>T	ENSP00000498395.1:n.-215-2321G>T
ENST00000340855.10:c.372G>T	ENSP00000339801.6:p.Lys124Asn
ENST00000370441.8:c.372G>T	ENSP00000359470.4:p.Lys124Asn
ENST00000422081.6:c.-215-2321G>T	ENSP00000477056.1:n.-215-2321G>T
ENST00000427113.2:n.770-1135G>T
ENST00000428056.6:c.372G>T	ENSP00000390241.2:p.Lys124Asn
ENST00000441880.1:n.114-16260G>T
ENST00000464251.5:c.195G>T	ENSP00000428980.1:p.Lys65Asn
ENST00000466323.5:c.372G>T	ENSP00000418264.1:p.Lys124Asn
ENST00000490775.5:n.31G>T
ENST00000523759.5:n.533-2321G>T
NM_000202.6:c.372G>T	NP_000193.1:p.Lys124Asn
NM_001166550.2:c.102G>T	NP_001160022.1:p.Lys34Asn
NM_006123.4:c.372G>T	NP_006114.1:p.Lys124Asn
NR_104128.1:n.589G>T
NM_000202.7:c.372G>T	NP_000193.1:p.Lys124Asn
NM_001166550.3:c.102G>T	NP_001160022.1:p.Lys34Asn
NM_000202.8:c.372G>T MANE Select	NP_000193.1:p.Lys124Asn
NM_001166550.4:c.102G>T	NP_001160022.1:p.Lys34Asn
NM_006123.5:c.372G>T	NP_006114.1:p.Lys124Asn
NR_104128.2:n.541G>T