Canonical Allele Identifier: CA355962408

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002039-C-G
• MyVariant Identifiers: chr4:g.995827C>G (hg19) ; chr4:g.1002039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002039C>G , CM000666.2:g.1002039C>G	GRCh38
NC_000004.11:g.995827C>G , CM000666.1:g.995827C>G	GRCh37
NC_000004.10:g.985827C>G	NCBI36
NG_008103.1:g.20043C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.850C>G	ENSP00000247933.4:p.Arg284Gly
ENST00000514224.2:c.850C>G MANE Select	ENSP00000425081.2:p.Arg284Gly
ENST00000652070.1:n.906C>G
ENST00000247933.8:c.850C>G	ENSP00000247933.4:p.Arg284Gly
ENST00000514192.5:c.667C>G	ENSP00000423685.1:p.Arg223Gly
ENST00000514224.1:c.454C>G	ENSP00000425081.1:p.Arg152Gly
ENST00000514698.5:n.850C>G
NM_000203.4:c.850C>G	NP_000194.2:p.Arg284Gly
NR_110313.1:n.938C>G
XM_006713882.2:c.454C>G	XP_006713945.1:p.Arg152Gly
XM_011513459.1:c.809C>G	XP_011511761.1:p.Pro270Arg
XM_011513460.1:c.709C>G	XP_011511762.1:p.Arg237Gly
XM_011513461.1:c.643C>G	XP_011511763.1:p.Arg215Gly
XM_011513462.1:c.562C>G	XP_011511764.1:p.Arg188Gly
XM_011513463.1:c.562C>G	XP_011511765.1:p.Arg188Gly
XR_924947.1:n.919C>G
NM_000203.5:c.850C>G MANE Select	NP_000194.2:p.Arg284Gly
NM_001363576.1:c.454C>G	NP_001350505.1:p.Arg152Gly
XM_011513461.2:c.643C>G	XP_011511763.1:p.Arg215Gly
XM_017008163.1:c.-111C>G	XP_016863652.1:n.-111C>G