Canonical Allele Identifier: CA438058071

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1672655
• ClinVar RCV Id: RCV002210634
• dbSNP Id: rs1715236417
• MyVariant Identifiers: chr4:g.997147G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003359G>C , CM000666.2:g.1003359G>C	GRCh38
NC_000004.11:g.997147G>C , CM000666.1:g.997147G>C	GRCh37
NC_000004.10:g.987147G>C	NCBI36
NG_008103.1:g.21363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1539G>C	ENSP00000247933.4:p.Ala513=
ENST00000514224.2:c.1539G>C MANE Select	ENSP00000425081.2:p.Ala513=
ENST00000652070.1:n.1595G>C
ENST00000247933.8:c.1539G>C	ENSP00000247933.4:p.Ala513=
ENST00000502829.1:n.528G>C
ENST00000514224.1:c.1143G>C	ENSP00000425081.1:p.Ala381=
ENST00000514698.5:n.1646G>C
NM_000203.4:c.1539G>C	NP_000194.2:p.Ala513=
NR_110313.1:n.1627G>C
XM_006713882.2:c.1143G>C	XP_006713945.1:p.Ala381=
XM_011513459.1:c.1605G>C	XP_011511761.1:p.Ala535=
XM_011513460.1:c.1398G>C	XP_011511762.1:p.Ala466=
XM_011513461.1:c.1332G>C	XP_011511763.1:p.Ala444=
XM_011513462.1:c.1251G>C	XP_011511764.1:p.Ala417=
XM_011513463.1:c.1251G>C	XP_011511765.1:p.Ala417=
XR_924947.1:n.1795G>C
NM_000203.5:c.1539G>C MANE Select	NP_000194.2:p.Ala513=
NM_001363576.1:c.1143G>C	NP_001350505.1:p.Ala381=
XM_011513461.2:c.1332G>C	XP_011511763.1:p.Ala444=
XM_017008163.1:c.579G>C	XP_016863652.1:p.Ala193=