Canonical Allele Identifier: CA355962991

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996079T>G (hg19) ; chr4:g.1002291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002291T>G , CM000666.2:g.1002291T>G	GRCh38
NC_000004.11:g.996079T>G , CM000666.1:g.996079T>G	GRCh37
NC_000004.10:g.986079T>G	NCBI36
NG_008103.1:g.20295T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.995T>G	ENSP00000247933.4:p.Leu332Arg
ENST00000514224.2:c.995T>G MANE Select	ENSP00000425081.2:p.Leu332Arg
ENST00000652070.1:n.1051T>G
ENST00000247933.8:c.995T>G	ENSP00000247933.4:p.Leu332Arg
ENST00000514224.1:c.599T>G	ENSP00000425081.1:p.Leu200Arg
ENST00000514698.5:n.1102T>G
NM_000203.4:c.995T>G	NP_000194.2:p.Leu332Arg
NR_110313.1:n.1083T>G
XM_006713882.2:c.599T>G	XP_006713945.1:p.Leu200Arg
XM_011513459.1:c.1061T>G	XP_011511761.1:p.Leu354Arg
XM_011513460.1:c.854T>G	XP_011511762.1:p.Leu285Arg
XM_011513461.1:c.788T>G	XP_011511763.1:p.Leu263Arg
XM_011513462.1:c.707T>G	XP_011511764.1:p.Leu236Arg
XM_011513463.1:c.707T>G	XP_011511765.1:p.Leu236Arg
XR_924947.1:n.1064T>G
NM_000203.5:c.995T>G MANE Select	NP_000194.2:p.Leu332Arg
NM_001363576.1:c.599T>G	NP_001350505.1:p.Leu200Arg
XM_011513461.2:c.788T>G	XP_011511763.1:p.Leu263Arg
XM_017008163.1:c.35T>G	XP_016863652.1:p.Leu12Arg