Canonical Allele Identifier: CA438057501

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2016702
• ClinVar RCV Id: RCV002851709
• dbSNP Id: rs1472617552
• gnomAD v2: 4-995856-C-G
• gnomAD v4: 4-1002068-C-G
• MyVariant Identifiers: chr4:g.995856C>G (hg19) ; chr4:g.1002068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002068C>G , CM000666.2:g.1002068C>G	GRCh38
NC_000004.11:g.995856C>G , CM000666.1:g.995856C>G	GRCh37
NC_000004.10:g.985856C>G	NCBI36
NG_008103.1:g.20072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.879C>G	ENSP00000247933.4:p.Thr293=
ENST00000514224.2:c.879C>G MANE Select	ENSP00000425081.2:p.Thr293=
ENST00000652070.1:n.935C>G
ENST00000247933.8:c.879C>G	ENSP00000247933.4:p.Thr293=
ENST00000514192.5:c.696C>G	ENSP00000423685.1:p.Thr232=
ENST00000514224.1:c.483C>G	ENSP00000425081.1:p.Thr161=
ENST00000514698.5:n.879C>G
NM_000203.4:c.879C>G	NP_000194.2:p.Thr293=
NR_110313.1:n.967C>G
XM_006713882.2:c.483C>G	XP_006713945.1:p.Thr161=
XM_011513459.1:c.838C>G	XP_011511761.1:p.Pro280Ala
XM_011513460.1:c.738C>G	XP_011511762.1:p.Thr246=
XM_011513461.1:c.672C>G	XP_011511763.1:p.Thr224=
XM_011513462.1:c.591C>G	XP_011511764.1:p.Thr197=
XM_011513463.1:c.591C>G	XP_011511765.1:p.Thr197=
XR_924947.1:n.948C>G
NM_000203.5:c.879C>G MANE Select	NP_000194.2:p.Thr293=
NM_001363576.1:c.483C>G	NP_001350505.1:p.Thr161=
XM_011513461.2:c.672C>G	XP_011511763.1:p.Thr224=
XM_017008163.1:c.-82C>G	XP_016863652.1:n.-82C>G