Canonical Allele Identifier: CA438057359

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001851-G-A
• MyVariant Identifiers: chr4:g.995639G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001851G>A , CM000666.2:g.1001851G>A	GRCh38
NC_000004.11:g.995639G>A , CM000666.1:g.995639G>A	GRCh37
NC_000004.10:g.985639G>A	NCBI36
NG_008103.1:g.19855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.762G>A	ENSP00000247933.4:p.Val254=
ENST00000514224.2:c.762G>A MANE Select	ENSP00000425081.2:p.Val254=
ENST00000652070.1:n.818G>A
ENST00000247933.8:c.762G>A	ENSP00000247933.4:p.Val254=
ENST00000502910.5:c.621G>A	ENSP00000422952.1:p.Val207=
ENST00000514192.5:c.579G>A	ENSP00000423685.1:p.Val193=
ENST00000514224.1:c.366G>A	ENSP00000425081.1:p.Val122=
ENST00000514698.5:n.662G>A
NM_000203.4:c.762G>A	NP_000194.2:p.Val254=
NR_110313.1:n.850G>A
XM_006713882.2:c.366G>A	XP_006713945.1:p.Val122=
XM_011513459.1:c.621G>A	XP_011511761.1:p.Val207=
XM_011513460.1:c.621G>A	XP_011511762.1:p.Val207=
XM_011513461.1:c.555G>A	XP_011511763.1:p.Val185=
XM_011513462.1:c.474G>A	XP_011511764.1:p.Val158=
XM_011513463.1:c.474G>A	XP_011511765.1:p.Val158=
XR_924947.1:n.831G>A
NM_000203.5:c.762G>A MANE Select	NP_000194.2:p.Val254=
NM_001363576.1:c.366G>A	NP_001350505.1:p.Val122=
XM_011513461.2:c.555G>A	XP_011511763.1:p.Val185=
XM_017008163.1:c.-199G>A	XP_016863652.1:n.-199G>A