Canonical Allele Identifier: CA355965125

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432759
• ClinVar RCV Id: RCV003133649
• dbSNP Id: rs2153022950
• MyVariant Identifiers: chr4:g.997251C>T (hg19) ; chr4:g.1003463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003463C>T , CM000666.2:g.1003463C>T	GRCh38
NC_000004.11:g.997251C>T , CM000666.1:g.997251C>T	GRCh37
NC_000004.10:g.987251C>T	NCBI36
NG_008103.1:g.21467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1643C>T	ENSP00000247933.4:p.Pro548Leu
ENST00000514224.2:c.1643C>T MANE Select	ENSP00000425081.2:p.Pro548Leu
ENST00000652070.1:n.1699C>T
ENST00000247933.8:c.1643C>T	ENSP00000247933.4:p.Pro548Leu
ENST00000514224.1:c.1247C>T	ENSP00000425081.1:p.Pro416Leu
ENST00000514417.1:n.35C>T
ENST00000514698.5:n.1750C>T
NM_000203.4:c.1643C>T	NP_000194.2:p.Pro548Leu
NR_110313.1:n.1731C>T
XM_006713882.2:c.1247C>T	XP_006713945.1:p.Pro416Leu
XM_011513459.1:c.1709C>T	XP_011511761.1:p.Pro570Leu
XM_011513460.1:c.1502C>T	XP_011511762.1:p.Pro501Leu
XM_011513461.1:c.1436C>T	XP_011511763.1:p.Pro479Leu
XM_011513462.1:c.1355C>T	XP_011511764.1:p.Pro452Leu
XM_011513463.1:c.1355C>T	XP_011511765.1:p.Pro452Leu
XR_924947.1:n.1899C>T
NM_000203.5:c.1643C>T MANE Select	NP_000194.2:p.Pro548Leu
NM_001363576.1:c.1247C>T	NP_001350505.1:p.Pro416Leu
XM_011513461.2:c.1436C>T	XP_011511763.1:p.Pro479Leu
XM_017008163.1:c.683C>T	XP_016863652.1:p.Pro228Leu