Canonical Allele Identifier: CA355962851

Gene: IDUA

Linked Data

• dbSNP Id: rs1230336914
• gnomAD v2: 4-995940-G-A
• gnomAD v4: 4-1002152-G-A
• MyVariant Identifiers: chr4:g.995940G>A (hg19) ; chr4:g.1002152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002152G>A , CM000666.2:g.1002152G>A	GRCh38
NC_000004.11:g.995940G>A , CM000666.1:g.995940G>A	GRCh37
NC_000004.10:g.985940G>A	NCBI36
NG_008103.1:g.20156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.963G>A	ENSP00000247933.4:p.Met321Ile
ENST00000514224.2:c.963G>A MANE Select	ENSP00000425081.2:p.Met321Ile
ENST00000652070.1:n.1019G>A
ENST00000247933.8:c.963G>A	ENSP00000247933.4:p.Met321Ile
ENST00000514224.1:c.567G>A	ENSP00000425081.1:p.Met189Ile
ENST00000514698.5:n.963G>A
NM_000203.4:c.963G>A	NP_000194.2:p.Met321Ile
NR_110313.1:n.1051G>A
XM_006713882.2:c.567G>A	XP_006713945.1:p.Met189Ile
XM_011513459.1:c.922G>A	XP_011511761.1:p.Gly308Ser
XM_011513460.1:c.822G>A	XP_011511762.1:p.Met274Ile
XM_011513461.1:c.756G>A	XP_011511763.1:p.Met252Ile
XM_011513462.1:c.675G>A	XP_011511764.1:p.Met225Ile
XM_011513463.1:c.675G>A	XP_011511765.1:p.Met225Ile
XR_924947.1:n.1032G>A
NM_000203.5:c.963G>A MANE Select	NP_000194.2:p.Met321Ile
NM_001363576.1:c.567G>A	NP_001350505.1:p.Met189Ile
XM_011513461.2:c.756G>A	XP_011511763.1:p.Met252Ile
XM_017008163.1:c.3G>A	XP_016863652.1:p.Met1Ile