Canonical Allele Identifier: CA355963404

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002432-T-C
• MyVariant Identifiers: chr4:g.996220T>C (hg19) ; chr4:g.1002432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002432T>C , CM000666.2:g.1002432T>C	GRCh38
NC_000004.11:g.996220T>C , CM000666.1:g.996220T>C	GRCh37
NC_000004.10:g.986220T>C	NCBI36
NG_008103.1:g.20436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1136T>C	ENSP00000247933.4:p.Val379Ala
ENST00000514224.2:c.1136T>C MANE Select	ENSP00000425081.2:p.Val379Ala
ENST00000652070.1:n.1192T>C
ENST00000247933.8:c.1136T>C	ENSP00000247933.4:p.Val379Ala
ENST00000514224.1:c.740T>C	ENSP00000425081.1:p.Val247Ala
ENST00000514698.5:n.1243T>C
NM_000203.4:c.1136T>C	NP_000194.2:p.Val379Ala
NR_110313.1:n.1224T>C
XM_006713882.2:c.740T>C	XP_006713945.1:p.Val247Ala
XM_011513459.1:c.1202T>C	XP_011511761.1:p.Val401Ala
XM_011513460.1:c.995T>C	XP_011511762.1:p.Val332Ala
XM_011513461.1:c.929T>C	XP_011511763.1:p.Val310Ala
XM_011513462.1:c.848T>C	XP_011511764.1:p.Val283Ala
XM_011513463.1:c.848T>C	XP_011511765.1:p.Val283Ala
XR_924947.1:n.1205T>C
NM_000203.5:c.1136T>C MANE Select	NP_000194.2:p.Val379Ala
NM_001363576.1:c.740T>C	NP_001350505.1:p.Val247Ala
XM_011513461.2:c.929T>C	XP_011511763.1:p.Val310Ala
XM_017008163.1:c.176T>C	XP_016863652.1:p.Val59Ala