Canonical Allele Identifier: CA438058108

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1994336
• ClinVar RCV Id: RCV002819013
• gnomAD v4: 4-1003380-C-T
• MyVariant Identifiers: chr4:g.997168C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003380C>T , CM000666.2:g.1003380C>T	GRCh38
NC_000004.11:g.997168C>T , CM000666.1:g.997168C>T	GRCh37
NC_000004.10:g.987168C>T	NCBI36
NG_008103.1:g.21384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1560C>T	ENSP00000247933.4:p.Ala520=
ENST00000514224.2:c.1560C>T MANE Select	ENSP00000425081.2:p.Ala520=
ENST00000652070.1:n.1616C>T
ENST00000247933.8:c.1560C>T	ENSP00000247933.4:p.Ala520=
ENST00000502829.1:n.549C>T
ENST00000514224.1:c.1164C>T	ENSP00000425081.1:p.Ala388=
ENST00000514698.5:n.1667C>T
NM_000203.4:c.1560C>T	NP_000194.2:p.Ala520=
NR_110313.1:n.1648C>T
XM_006713882.2:c.1164C>T	XP_006713945.1:p.Ala388=
XM_011513459.1:c.1626C>T	XP_011511761.1:p.Ala542=
XM_011513460.1:c.1419C>T	XP_011511762.1:p.Ala473=
XM_011513461.1:c.1353C>T	XP_011511763.1:p.Ala451=
XM_011513462.1:c.1272C>T	XP_011511764.1:p.Ala424=
XM_011513463.1:c.1272C>T	XP_011511765.1:p.Ala424=
XR_924947.1:n.1816C>T
NM_000203.5:c.1560C>T MANE Select	NP_000194.2:p.Ala520=
NM_001363576.1:c.1164C>T	NP_001350505.1:p.Ala388=
XM_011513461.2:c.1353C>T	XP_011511763.1:p.Ala451=
XM_017008163.1:c.600C>T	XP_016863652.1:p.Ala200=