Canonical Allele Identifier: CA355962263

Gene: IDUA

Linked Data

• dbSNP Id: rs1715103254
• gnomAD v4: 4-1001875-C-A
• MyVariant Identifiers: chr4:g.995663C>A (hg19) ; chr4:g.1001875C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001875C>A , CM000666.2:g.1001875C>A	GRCh38
NC_000004.11:g.995663C>A , CM000666.1:g.995663C>A	GRCh37
NC_000004.10:g.985663C>A	NCBI36
NG_008103.1:g.19879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.786C>A	ENSP00000247933.4:p.His262Gln
ENST00000514224.2:c.786C>A MANE Select	ENSP00000425081.2:p.His262Gln
ENST00000652070.1:n.842C>A
ENST00000247933.8:c.786C>A	ENSP00000247933.4:p.His262Gln
ENST00000502910.5:c.645C>A	ENSP00000422952.1:p.His215Gln
ENST00000514192.5:c.603C>A	ENSP00000423685.1:p.His201Gln
ENST00000514224.1:c.390C>A	ENSP00000425081.1:p.His130Gln
ENST00000514698.5:n.686C>A
NM_000203.4:c.786C>A	NP_000194.2:p.His262Gln
NR_110313.1:n.874C>A
XM_006713882.2:c.390C>A	XP_006713945.1:p.His130Gln
XM_011513459.1:c.645C>A	XP_011511761.1:p.His215Gln
XM_011513460.1:c.645C>A	XP_011511762.1:p.His215Gln
XM_011513461.1:c.579C>A	XP_011511763.1:p.His193Gln
XM_011513462.1:c.498C>A	XP_011511764.1:p.His166Gln
XM_011513463.1:c.498C>A	XP_011511765.1:p.His166Gln
XR_924947.1:n.855C>A
NM_000203.5:c.786C>A MANE Select	NP_000194.2:p.His262Gln
NM_001363576.1:c.390C>A	NP_001350505.1:p.His130Gln
XM_011513461.2:c.579C>A	XP_011511763.1:p.His193Gln
XM_017008163.1:c.-175C>A	XP_016863652.1:n.-175C>A