Canonical Allele Identifier: CA91170727

Gene: IDUA

Linked Data

• ClinVar Variation Id: 799353
• ClinVar RCV Id: RCV000982950
• dbSNP Id: rs1022872293
• gnomAD v2: 4-997178-C-T
• gnomAD v4: 4-1003390-C-T
• MyVariant Identifiers: chr4:g.997178C>T (hg19) ; chr4:g.1003390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003390C>T , CM000666.2:g.1003390C>T	GRCh38
NC_000004.11:g.997178C>T , CM000666.1:g.997178C>T	GRCh37
NC_000004.10:g.987178C>T	NCBI36
NG_008103.1:g.21394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1570C>T	ENSP00000247933.4:p.Leu524=
ENST00000514224.2:c.1570C>T MANE Select	ENSP00000425081.2:p.Leu524=
ENST00000652070.1:n.1626C>T
ENST00000247933.8:c.1570C>T	ENSP00000247933.4:p.Leu524=
ENST00000514224.1:c.1174C>T	ENSP00000425081.1:p.Leu392=
ENST00000514698.5:n.1677C>T
NM_000203.4:c.1570C>T	NP_000194.2:p.Leu524=
NR_110313.1:n.1658C>T
XM_006713882.2:c.1174C>T	XP_006713945.1:p.Leu392=
XM_011513459.1:c.1636C>T	XP_011511761.1:p.Leu546=
XM_011513460.1:c.1429C>T	XP_011511762.1:p.Leu477=
XM_011513461.1:c.1363C>T	XP_011511763.1:p.Leu455=
XM_011513462.1:c.1282C>T	XP_011511764.1:p.Leu428=
XM_011513463.1:c.1282C>T	XP_011511765.1:p.Leu428=
XR_924947.1:n.1826C>T
NM_000203.5:c.1570C>T MANE Select	NP_000194.2:p.Leu524=
NM_001363576.1:c.1174C>T	NP_001350505.1:p.Leu392=
XM_011513461.2:c.1363C>T	XP_011511763.1:p.Leu455=
XM_017008163.1:c.610C>T	XP_016863652.1:p.Leu204=