Canonical Allele Identifier: CA2802354

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2139324
• ClinVar RCV Id: RCV003070797
• dbSNP Id: rs371671953
• ExAC: 4:997380 T / C
• gnomAD v2: 4-997380-T-C
• gnomAD v3: 4-1003592-T-C
• gnomAD v4: 4-1003592-T-C
• MyVariant Identifiers: chr4:g.997380T>C (hg19) ; chr4:g.1003592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003592T>C , CM000666.2:g.1003592T>C	GRCh38
NC_000004.11:g.997380T>C , CM000666.1:g.997380T>C	GRCh37
NC_000004.10:g.987380T>C	NCBI36
NG_008103.1:g.21596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1694T>C	ENSP00000247933.4:p.Val565Ala
ENST00000514224.2:c.1694T>C MANE Select	ENSP00000425081.2:p.Val565Ala
ENST00000652070.1:n.1750T>C
ENST00000247933.8:c.1694T>C	ENSP00000247933.4:p.Val565Ala
ENST00000514224.1:c.1298T>C	ENSP00000425081.1:p.Val433Ala
ENST00000514417.1:n.86T>C
ENST00000514698.5:n.1801T>C
NM_000203.4:c.1694T>C	NP_000194.2:p.Val565Ala
NR_110313.1:n.1782T>C
XM_006713882.2:c.1298T>C	XP_006713945.1:p.Val433Ala
XM_011513459.1:c.1760T>C	XP_011511761.1:p.Val587Ala
XM_011513460.1:c.1553T>C	XP_011511762.1:p.Val518Ala
XM_011513461.1:c.1487T>C	XP_011511763.1:p.Val496Ala
XM_011513462.1:c.1406T>C	XP_011511764.1:p.Val469Ala
XM_011513463.1:c.1406T>C	XP_011511765.1:p.Val469Ala
XR_924947.1:n.1950T>C
NM_000203.5:c.1694T>C MANE Select	NP_000194.2:p.Val565Ala
NM_001363576.1:c.1298T>C	NP_001350505.1:p.Val433Ala
XM_011513461.2:c.1487T>C	XP_011511763.1:p.Val496Ala
XM_017008163.1:c.734T>C	XP_016863652.1:p.Val245Ala