Canonical Allele Identifier: CA355962369

Gene: IDUA

Linked Data

• dbSNP Id: rs1184590180
• gnomAD v2: 4-995809-G-A
• gnomAD v4: 4-1002021-G-A
• MyVariant Identifiers: chr4:g.995809G>A (hg19) ; chr4:g.1002021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002021G>A , CM000666.2:g.1002021G>A	GRCh38
NC_000004.11:g.995809G>A , CM000666.1:g.995809G>A	GRCh37
NC_000004.10:g.985809G>A	NCBI36
NG_008103.1:g.20025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.832G>A	ENSP00000247933.4:p.Val278Ile
ENST00000514224.2:c.832G>A MANE Select	ENSP00000425081.2:p.Val278Ile
ENST00000652070.1:n.888G>A
ENST00000247933.8:c.832G>A	ENSP00000247933.4:p.Val278Ile
ENST00000514192.5:c.649G>A	ENSP00000423685.1:p.Val217Ile
ENST00000514224.1:c.436G>A	ENSP00000425081.1:p.Val146Ile
ENST00000514698.5:n.832G>A
NM_000203.4:c.832G>A	NP_000194.2:p.Val278Ile
NR_110313.1:n.920G>A
XM_006713882.2:c.436G>A	XP_006713945.1:p.Val146Ile
XM_011513459.1:c.791G>A	XP_011511761.1:p.Gly264Asp
XM_011513460.1:c.691G>A	XP_011511762.1:p.Val231Ile
XM_011513461.1:c.625G>A	XP_011511763.1:p.Val209Ile
XM_011513462.1:c.544G>A	XP_011511764.1:p.Val182Ile
XM_011513463.1:c.544G>A	XP_011511765.1:p.Val182Ile
XR_924947.1:n.901G>A
NM_000203.5:c.832G>A MANE Select	NP_000194.2:p.Val278Ile
NM_001363576.1:c.436G>A	NP_001350505.1:p.Val146Ile
XM_011513461.2:c.625G>A	XP_011511763.1:p.Val209Ile
XM_017008163.1:c.-129G>A	XP_016863652.1:n.-129G>A