Canonical Allele Identifier: CA438057454

Gene: IDUA

Linked Data

• dbSNP Id: rs758749484
• MyVariant Identifiers: chr4:g.995814C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002026C>G , CM000666.2:g.1002026C>G	GRCh38
NC_000004.11:g.995814C>G , CM000666.1:g.995814C>G	GRCh37
NC_000004.10:g.985814C>G	NCBI36
NG_008103.1:g.20030C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.837C>G	ENSP00000247933.4:p.Val279=
ENST00000514224.2:c.837C>G MANE Select	ENSP00000425081.2:p.Val279=
ENST00000652070.1:n.893C>G
ENST00000247933.8:c.837C>G	ENSP00000247933.4:p.Val279=
ENST00000514192.5:c.654C>G	ENSP00000423685.1:p.Val218=
ENST00000514224.1:c.441C>G	ENSP00000425081.1:p.Val147=
ENST00000514698.5:n.837C>G
NM_000203.4:c.837C>G	NP_000194.2:p.Val279=
NR_110313.1:n.925C>G
XM_006713882.2:c.441C>G	XP_006713945.1:p.Val147=
XM_011513459.1:c.796C>G	XP_011511761.1:p.Arg266Gly
XM_011513460.1:c.696C>G	XP_011511762.1:p.Val232=
XM_011513461.1:c.630C>G	XP_011511763.1:p.Val210=
XM_011513462.1:c.549C>G	XP_011511764.1:p.Val183=
XM_011513463.1:c.549C>G	XP_011511765.1:p.Val183=
XR_924947.1:n.906C>G
NM_000203.5:c.837C>G MANE Select	NP_000194.2:p.Val279=
NM_001363576.1:c.441C>G	NP_001350505.1:p.Val147=
XM_011513461.2:c.630C>G	XP_011511763.1:p.Val210=
XM_017008163.1:c.-124C>G	XP_016863652.1:n.-124C>G