Canonical Allele Identifier: CA355965234

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997386T>C (hg19) ; chr4:g.1003598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003598T>C , CM000666.2:g.1003598T>C	GRCh38
NC_000004.11:g.997386T>C , CM000666.1:g.997386T>C	GRCh37
NC_000004.10:g.987386T>C	NCBI36
NG_008103.1:g.21602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1700T>C	ENSP00000247933.4:p.Val567Ala
ENST00000514224.2:c.1700T>C MANE Select	ENSP00000425081.2:p.Val567Ala
ENST00000652070.1:n.1756T>C
ENST00000247933.8:c.1700T>C	ENSP00000247933.4:p.Val567Ala
ENST00000514224.1:c.1304T>C	ENSP00000425081.1:p.Val435Ala
ENST00000514417.1:n.92T>C
ENST00000514698.5:n.1807T>C
NM_000203.4:c.1700T>C	NP_000194.2:p.Val567Ala
NR_110313.1:n.1788T>C
XM_006713882.2:c.1304T>C	XP_006713945.1:p.Val435Ala
XM_011513459.1:c.1766T>C	XP_011511761.1:p.Val589Ala
XM_011513460.1:c.1559T>C	XP_011511762.1:p.Val520Ala
XM_011513461.1:c.1493T>C	XP_011511763.1:p.Val498Ala
XM_011513462.1:c.1412T>C	XP_011511764.1:p.Val471Ala
XM_011513463.1:c.1412T>C	XP_011511765.1:p.Val471Ala
XR_924947.1:n.1956T>C
NM_000203.5:c.1700T>C MANE Select	NP_000194.2:p.Val567Ala
NM_001363576.1:c.1304T>C	NP_001350505.1:p.Val435Ala
XM_011513461.2:c.1493T>C	XP_011511763.1:p.Val498Ala
XM_017008163.1:c.740T>C	XP_016863652.1:p.Val247Ala