Canonical Allele Identifier: CA438057685

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996089C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002301C>G , CM000666.2:g.1002301C>G	GRCh38
NC_000004.11:g.996089C>G , CM000666.1:g.996089C>G	GRCh37
NC_000004.10:g.986089C>G	NCBI36
NG_008103.1:g.20305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1005C>G	ENSP00000247933.4:p.Ala335=
ENST00000514224.2:c.1005C>G MANE Select	ENSP00000425081.2:p.Ala335=
ENST00000652070.1:n.1061C>G
ENST00000247933.8:c.1005C>G	ENSP00000247933.4:p.Ala335=
ENST00000514224.1:c.609C>G	ENSP00000425081.1:p.Ala203=
ENST00000514698.5:n.1112C>G
NM_000203.4:c.1005C>G	NP_000194.2:p.Ala335=
NR_110313.1:n.1093C>G
XM_006713882.2:c.609C>G	XP_006713945.1:p.Ala203=
XM_011513459.1:c.1071C>G	XP_011511761.1:p.Ala357=
XM_011513460.1:c.864C>G	XP_011511762.1:p.Ala288=
XM_011513461.1:c.798C>G	XP_011511763.1:p.Ala266=
XM_011513462.1:c.717C>G	XP_011511764.1:p.Ala239=
XM_011513463.1:c.717C>G	XP_011511765.1:p.Ala239=
XR_924947.1:n.1074C>G
NM_000203.5:c.1005C>G MANE Select	NP_000194.2:p.Ala335=
NM_001363576.1:c.609C>G	NP_001350505.1:p.Ala203=
XM_011513461.2:c.798C>G	XP_011511763.1:p.Ala266=
XM_017008163.1:c.45C>G	XP_016863652.1:p.Ala15=