Canonical Allele Identifier: CA2802341

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1410776
• ClinVar RCV Id: RCV001920286 ; RCV003130598
• dbSNP Id: rs778877259
• ExAC: 4:997337 G / C
• gnomAD v2: 4-997337-G-C
• gnomAD v3: 4-1003549-G-C
• gnomAD v4: 4-1003549-G-C
• MyVariant Identifiers: chr4:g.997337G>C (hg19) ; chr4:g.1003549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003549G>C , CM000666.2:g.1003549G>C	GRCh38
NC_000004.11:g.997337G>C , CM000666.1:g.997337G>C	GRCh37
NC_000004.10:g.987337G>C	NCBI36
NG_008103.1:g.21553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651G>C	ENSP00000247933.4:p.Val551Leu
ENST00000514224.2:c.1651G>C MANE Select	ENSP00000425081.2:p.Val551Leu
ENST00000652070.1:n.1707G>C
ENST00000247933.8:c.1651G>C	ENSP00000247933.4:p.Val551Leu
ENST00000514224.1:c.1255G>C	ENSP00000425081.1:p.Val419Leu
ENST00000514417.1:n.43G>C
ENST00000514698.5:n.1758G>C
NM_000203.4:c.1651G>C	NP_000194.2:p.Val551Leu
NR_110313.1:n.1739G>C
XM_006713882.2:c.1255G>C	XP_006713945.1:p.Val419Leu
XM_011513459.1:c.1717G>C	XP_011511761.1:p.Val573Leu
XM_011513460.1:c.1510G>C	XP_011511762.1:p.Val504Leu
XM_011513461.1:c.1444G>C	XP_011511763.1:p.Val482Leu
XM_011513462.1:c.1363G>C	XP_011511764.1:p.Val455Leu
XM_011513463.1:c.1363G>C	XP_011511765.1:p.Val455Leu
XR_924947.1:n.1907G>C
NM_000203.5:c.1651G>C MANE Select	NP_000194.2:p.Val551Leu
NM_001363576.1:c.1255G>C	NP_001350505.1:p.Val419Leu
XM_011513461.2:c.1444G>C	XP_011511763.1:p.Val482Leu
XM_017008163.1:c.691G>C	XP_016863652.1:p.Val231Leu