Canonical Allele Identifier: CA355963821

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002830-C-G
• MyVariant Identifiers: chr4:g.996618C>G (hg19) ; chr4:g.1002830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002830C>G , CM000666.2:g.1002830C>G	GRCh38
NC_000004.11:g.996618C>G , CM000666.1:g.996618C>G	GRCh37
NC_000004.10:g.986618C>G	NCBI36
NG_008103.1:g.20834C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1288C>G	ENSP00000247933.4:p.Pro430Ala
ENST00000514224.2:c.1288C>G MANE Select	ENSP00000425081.2:p.Pro430Ala
ENST00000652070.1:n.1344C>G
ENST00000247933.8:c.1288C>G	ENSP00000247933.4:p.Pro430Ala
ENST00000502829.1:n.90C>G
ENST00000514224.1:c.892C>G	ENSP00000425081.1:p.Pro298Ala
ENST00000514698.5:n.1395C>G
NM_000203.4:c.1288C>G	NP_000194.2:p.Pro430Ala
NR_110313.1:n.1376C>G
XM_006713882.2:c.892C>G	XP_006713945.1:p.Pro298Ala
XM_011513459.1:c.1354C>G	XP_011511761.1:p.Pro452Ala
XM_011513460.1:c.1147C>G	XP_011511762.1:p.Pro383Ala
XM_011513461.1:c.1081C>G	XP_011511763.1:p.Pro361Ala
XM_011513462.1:c.1000C>G	XP_011511764.1:p.Pro334Ala
XM_011513463.1:c.1000C>G	XP_011511765.1:p.Pro334Ala
XR_924947.1:n.1357C>G
NM_000203.5:c.1288C>G MANE Select	NP_000194.2:p.Pro430Ala
NM_001363576.1:c.892C>G	NP_001350505.1:p.Pro298Ala
XM_011513461.2:c.1081C>G	XP_011511763.1:p.Pro361Ala
XM_017008163.1:c.328C>G	XP_016863652.1:p.Pro110Ala