Canonical Allele Identifier: CA355965273

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997403G>C (hg19) ; chr4:g.1003615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003615G>C , CM000666.2:g.1003615G>C	GRCh38
NC_000004.11:g.997403G>C , CM000666.1:g.997403G>C	GRCh37
NC_000004.10:g.987403G>C	NCBI36
NG_008103.1:g.21619G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1717G>C	ENSP00000247933.4:p.Val573Leu
ENST00000514224.2:c.1717G>C MANE Select	ENSP00000425081.2:p.Val573Leu
ENST00000652070.1:n.1773G>C
ENST00000247933.8:c.1717G>C	ENSP00000247933.4:p.Val573Leu
ENST00000514224.1:c.1321G>C	ENSP00000425081.1:p.Val441Leu
ENST00000514417.1:n.109G>C
ENST00000514698.5:n.1824G>C
NM_000203.4:c.1717G>C	NP_000194.2:p.Val573Leu
NR_110313.1:n.1805G>C
XM_006713882.2:c.1321G>C	XP_006713945.1:p.Val441Leu
XM_011513459.1:c.1783G>C	XP_011511761.1:p.Val595Leu
XM_011513460.1:c.1576G>C	XP_011511762.1:p.Val526Leu
XM_011513461.1:c.1510G>C	XP_011511763.1:p.Val504Leu
XM_011513462.1:c.1429G>C	XP_011511764.1:p.Val477Leu
XM_011513463.1:c.1429G>C	XP_011511765.1:p.Val477Leu
XR_924947.1:n.1973G>C
NM_000203.5:c.1717G>C MANE Select	NP_000194.2:p.Val573Leu
NM_001363576.1:c.1321G>C	NP_001350505.1:p.Val441Leu
XM_011513461.2:c.1510G>C	XP_011511763.1:p.Val504Leu
XM_017008163.1:c.757G>C	XP_016863652.1:p.Val253Leu