Canonical Allele Identifier: CA355962998

Gene: IDUA

Linked Data

• dbSNP Id: rs1264690060
• gnomAD v2: 4-996082-T-C
• gnomAD v4: 4-1002294-T-C
• MyVariant Identifiers: chr4:g.996082T>C (hg19) ; chr4:g.1002294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002294T>C , CM000666.2:g.1002294T>C	GRCh38
NC_000004.11:g.996082T>C , CM000666.1:g.996082T>C	GRCh37
NC_000004.10:g.986082T>C	NCBI36
NG_008103.1:g.20298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.998T>C	ENSP00000247933.4:p.Leu333Pro
ENST00000514224.2:c.998T>C MANE Select	ENSP00000425081.2:p.Leu333Pro
ENST00000652070.1:n.1054T>C
ENST00000247933.8:c.998T>C	ENSP00000247933.4:p.Leu333Pro
ENST00000514224.1:c.602T>C	ENSP00000425081.1:p.Leu201Pro
ENST00000514698.5:n.1105T>C
NM_000203.4:c.998T>C	NP_000194.2:p.Leu333Pro
NR_110313.1:n.1086T>C
XM_006713882.2:c.602T>C	XP_006713945.1:p.Leu201Pro
XM_011513459.1:c.1064T>C	XP_011511761.1:p.Leu355Pro
XM_011513460.1:c.857T>C	XP_011511762.1:p.Leu286Pro
XM_011513461.1:c.791T>C	XP_011511763.1:p.Leu264Pro
XM_011513462.1:c.710T>C	XP_011511764.1:p.Leu237Pro
XM_011513463.1:c.710T>C	XP_011511765.1:p.Leu237Pro
XR_924947.1:n.1067T>C
NM_000203.5:c.998T>C MANE Select	NP_000194.2:p.Leu333Pro
NM_001363576.1:c.602T>C	NP_001350505.1:p.Leu201Pro
XM_011513461.2:c.791T>C	XP_011511763.1:p.Leu264Pro
XM_017008163.1:c.38T>C	XP_016863652.1:p.Leu13Pro