Canonical Allele Identifier: CA91171132

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2415639
• ClinVar RCV Id: RCV003104851
• dbSNP Id: rs951711740
• gnomAD v4: 4-1003588-C-T
• MyVariant Identifiers: chr4:g.997376C>T (hg19) ; chr4:g.1003588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003588C>T , CM000666.2:g.1003588C>T	GRCh38
NC_000004.11:g.997376C>T , CM000666.1:g.997376C>T	GRCh37
NC_000004.10:g.987376C>T	NCBI36
NG_008103.1:g.21592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1690C>T	ENSP00000247933.4:p.Leu564=
ENST00000514224.2:c.1690C>T MANE Select	ENSP00000425081.2:p.Leu564=
ENST00000652070.1:n.1746C>T
ENST00000247933.8:c.1690C>T	ENSP00000247933.4:p.Leu564=
ENST00000514224.1:c.1294C>T	ENSP00000425081.1:p.Leu432=
ENST00000514417.1:n.82C>T
ENST00000514698.5:n.1797C>T
NM_000203.4:c.1690C>T	NP_000194.2:p.Leu564=
NR_110313.1:n.1778C>T
XM_006713882.2:c.1294C>T	XP_006713945.1:p.Leu432=
XM_011513459.1:c.1756C>T	XP_011511761.1:p.Leu586=
XM_011513460.1:c.1549C>T	XP_011511762.1:p.Leu517=
XM_011513461.1:c.1483C>T	XP_011511763.1:p.Leu495=
XM_011513462.1:c.1402C>T	XP_011511764.1:p.Leu468=
XM_011513463.1:c.1402C>T	XP_011511765.1:p.Leu468=
XR_924947.1:n.1946C>T
NM_000203.5:c.1690C>T MANE Select	NP_000194.2:p.Leu564=
NM_001363576.1:c.1294C>T	NP_001350505.1:p.Leu432=
XM_011513461.2:c.1483C>T	XP_011511763.1:p.Leu495=
XM_017008163.1:c.730C>T	XP_016863652.1:p.Leu244=