Canonical Allele Identifier: CA438057431

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1614859
• ClinVar RCV Id: RCV002078921
• dbSNP Id: rs1379813895
• gnomAD v2: 4-995793-C-T
• gnomAD v4: 4-1002005-C-T
• MyVariant Identifiers: chr4:g.995793C>T (hg19) ; chr4:g.1002005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002005C>T , CM000666.2:g.1002005C>T	GRCh38
NC_000004.11:g.995793C>T , CM000666.1:g.995793C>T	GRCh37
NC_000004.10:g.985793C>T	NCBI36
NG_008103.1:g.20009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.816C>T	ENSP00000247933.4:p.Ile272=
ENST00000514224.2:c.816C>T MANE Select	ENSP00000425081.2:p.Ile272=
ENST00000652070.1:n.872C>T
ENST00000247933.8:c.816C>T	ENSP00000247933.4:p.Ile272=
ENST00000514192.5:c.633C>T	ENSP00000423685.1:p.Ile211=
ENST00000514224.1:c.420C>T	ENSP00000425081.1:p.Ile140=
ENST00000514698.5:n.816C>T
NM_000203.4:c.816C>T	NP_000194.2:p.Ile272=
NR_110313.1:n.904C>T
XM_006713882.2:c.420C>T	XP_006713945.1:p.Ile140=
XM_011513459.1:c.775C>T	XP_011511761.1:p.Pro259Ser
XM_011513460.1:c.675C>T	XP_011511762.1:p.Ile225=
XM_011513461.1:c.609C>T	XP_011511763.1:p.Ile203=
XM_011513462.1:c.528C>T	XP_011511764.1:p.Ile176=
XM_011513463.1:c.528C>T	XP_011511765.1:p.Ile176=
XR_924947.1:n.885C>T
NM_000203.5:c.816C>T MANE Select	NP_000194.2:p.Ile272=
NM_001363576.1:c.420C>T	NP_001350505.1:p.Ile140=
XM_011513461.2:c.609C>T	XP_011511763.1:p.Ile203=
XM_017008163.1:c.-145C>T	XP_016863652.1:n.-145C>T