Canonical Allele Identifier: CA355963573

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002756-T-C
• MyVariant Identifiers: chr4:g.996544T>C (hg19) ; chr4:g.1002756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002756T>C , CM000666.2:g.1002756T>C	GRCh38
NC_000004.11:g.996544T>C , CM000666.1:g.996544T>C	GRCh37
NC_000004.10:g.986544T>C	NCBI36
NG_008103.1:g.20760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1214T>C	ENSP00000247933.4:p.Val405Ala
ENST00000514224.2:c.1214T>C MANE Select	ENSP00000425081.2:p.Val405Ala
ENST00000652070.1:n.1270T>C
ENST00000247933.8:c.1214T>C	ENSP00000247933.4:p.Val405Ala
ENST00000502829.1:n.16T>C
ENST00000514224.1:c.818T>C	ENSP00000425081.1:p.Val273Ala
ENST00000514698.5:n.1321T>C
NM_000203.4:c.1214T>C	NP_000194.2:p.Val405Ala
NR_110313.1:n.1302T>C
XM_006713882.2:c.818T>C	XP_006713945.1:p.Val273Ala
XM_011513459.1:c.1280T>C	XP_011511761.1:p.Val427Ala
XM_011513460.1:c.1073T>C	XP_011511762.1:p.Val358Ala
XM_011513461.1:c.1007T>C	XP_011511763.1:p.Val336Ala
XM_011513462.1:c.926T>C	XP_011511764.1:p.Val309Ala
XM_011513463.1:c.926T>C	XP_011511765.1:p.Val309Ala
XR_924947.1:n.1283T>C
NM_000203.5:c.1214T>C MANE Select	NP_000194.2:p.Val405Ala
NM_001363576.1:c.818T>C	NP_001350505.1:p.Val273Ala
XM_011513461.2:c.1007T>C	XP_011511763.1:p.Val336Ala
XM_017008163.1:c.254T>C	XP_016863652.1:p.Val85Ala