Canonical Allele Identifier: CA355965252

Gene: IDUA

Linked Data

• ClinVar Variation Id: 551300
• ClinVar RCV Id: RCV000666323 ; RCV002530678
• dbSNP Id: rs1553917627
• gnomAD v4: 4-1003606-G-C
• MyVariant Identifiers: chr4:g.997394G>C (hg19) ; chr4:g.1003606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003606G>C , CM000666.2:g.1003606G>C	GRCh38
NC_000004.11:g.997394G>C , CM000666.1:g.997394G>C	GRCh37
NC_000004.10:g.987394G>C	NCBI36
NG_008103.1:g.21610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1708G>C	ENSP00000247933.4:p.Asp570His
ENST00000514224.2:c.1708G>C MANE Select	ENSP00000425081.2:p.Asp570His
ENST00000652070.1:n.1764G>C
ENST00000247933.8:c.1708G>C	ENSP00000247933.4:p.Asp570His
ENST00000514224.1:c.1312G>C	ENSP00000425081.1:p.Asp438His
ENST00000514417.1:n.100G>C
ENST00000514698.5:n.1815G>C
NM_000203.4:c.1708G>C	NP_000194.2:p.Asp570His
NR_110313.1:n.1796G>C
XM_006713882.2:c.1312G>C	XP_006713945.1:p.Asp438His
XM_011513459.1:c.1774G>C	XP_011511761.1:p.Asp592His
XM_011513460.1:c.1567G>C	XP_011511762.1:p.Asp523His
XM_011513461.1:c.1501G>C	XP_011511763.1:p.Asp501His
XM_011513462.1:c.1420G>C	XP_011511764.1:p.Asp474His
XM_011513463.1:c.1420G>C	XP_011511765.1:p.Asp474His
XR_924947.1:n.1964G>C
NM_000203.5:c.1708G>C MANE Select	NP_000194.2:p.Asp570His
NM_001363576.1:c.1312G>C	NP_001350505.1:p.Asp438His
XM_011513461.2:c.1501G>C	XP_011511763.1:p.Asp501His
XM_017008163.1:c.748G>C	XP_016863652.1:p.Asp250His