Canonical Allele Identifier: CA355965205

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003583-G-C
• MyVariant Identifiers: chr4:g.997371G>C (hg19) ; chr4:g.1003583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003583G>C , CM000666.2:g.1003583G>C	GRCh38
NC_000004.11:g.997371G>C , CM000666.1:g.997371G>C	GRCh37
NC_000004.10:g.987371G>C	NCBI36
NG_008103.1:g.21587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1685G>C	ENSP00000247933.4:p.Gly562Ala
ENST00000514224.2:c.1685G>C MANE Select	ENSP00000425081.2:p.Gly562Ala
ENST00000652070.1:n.1741G>C
ENST00000247933.8:c.1685G>C	ENSP00000247933.4:p.Gly562Ala
ENST00000514224.1:c.1289G>C	ENSP00000425081.1:p.Gly430Ala
ENST00000514417.1:n.77G>C
ENST00000514698.5:n.1792G>C
NM_000203.4:c.1685G>C	NP_000194.2:p.Gly562Ala
NR_110313.1:n.1773G>C
XM_006713882.2:c.1289G>C	XP_006713945.1:p.Gly430Ala
XM_011513459.1:c.1751G>C	XP_011511761.1:p.Gly584Ala
XM_011513460.1:c.1544G>C	XP_011511762.1:p.Gly515Ala
XM_011513461.1:c.1478G>C	XP_011511763.1:p.Gly493Ala
XM_011513462.1:c.1397G>C	XP_011511764.1:p.Gly466Ala
XM_011513463.1:c.1397G>C	XP_011511765.1:p.Gly466Ala
XR_924947.1:n.1941G>C
NM_000203.5:c.1685G>C MANE Select	NP_000194.2:p.Gly562Ala
NM_001363576.1:c.1289G>C	NP_001350505.1:p.Gly430Ala
XM_011513461.2:c.1478G>C	XP_011511763.1:p.Gly493Ala
XM_017008163.1:c.725G>C	XP_016863652.1:p.Gly242Ala