Canonical Allele Identifier: CA2802167

Gene: IDUA

Linked Data

• dbSNP Id: rs754095810
• ExAC: 4:996114 G / A
• gnomAD v2: 4-996114-G-A
• gnomAD v3: 4-1002326-G-A
• gnomAD v4: 4-1002326-G-A
• COSMIC: COSM2989454 ; COSM2989455
• MyVariant Identifiers: chr4:g.996114G>A (hg19) ; chr4:g.1002326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002326G>A , CM000666.2:g.1002326G>A	GRCh38
NC_000004.11:g.996114G>A , CM000666.1:g.996114G>A	GRCh37
NC_000004.10:g.986114G>A	NCBI36
NG_008103.1:g.20330G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1030G>A	ENSP00000247933.4:p.Ala344Thr
ENST00000514224.2:c.1030G>A MANE Select	ENSP00000425081.2:p.Ala344Thr
ENST00000652070.1:n.1086G>A
ENST00000247933.8:c.1030G>A	ENSP00000247933.4:p.Ala344Thr
ENST00000514224.1:c.634G>A	ENSP00000425081.1:p.Ala212Thr
ENST00000514698.5:n.1137G>A
NM_000203.4:c.1030G>A	NP_000194.2:p.Ala344Thr
NR_110313.1:n.1118G>A
XM_006713882.2:c.634G>A	XP_006713945.1:p.Ala212Thr
XM_011513459.1:c.1096G>A	XP_011511761.1:p.Ala366Thr
XM_011513460.1:c.889G>A	XP_011511762.1:p.Ala297Thr
XM_011513461.1:c.823G>A	XP_011511763.1:p.Ala275Thr
XM_011513462.1:c.742G>A	XP_011511764.1:p.Ala248Thr
XM_011513463.1:c.742G>A	XP_011511765.1:p.Ala248Thr
XR_924947.1:n.1099G>A
NM_000203.5:c.1030G>A MANE Select	NP_000194.2:p.Ala344Thr
NM_001363576.1:c.634G>A	NP_001350505.1:p.Ala212Thr
XM_011513461.2:c.823G>A	XP_011511763.1:p.Ala275Thr
XM_017008163.1:c.70G>A	XP_016863652.1:p.Ala24Thr