Canonical Allele Identifier: CA355965929

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004285C>A , CM000666.2:g.1004285C>A	GRCh38
NC_000004.11:g.998073C>A , CM000666.1:g.998073C>A	GRCh37
NC_000004.10:g.988073C>A	NCBI36
NG_008103.1:g.22289C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1854C>A MANE Select	NP_000194.2:p.Tyr618Ter
ENST00000514224.2:c.1854C>A MANE Select	ENSP00000425081.2:p.Tyr618Ter
NM_000203.4:c.1854C>A	NP_000194.2:p.Tyr618Ter
NM_001363576.1:c.1458C>A	NP_001350505.1:p.Tyr486Ter
NR_110313.1:n.1946C>A
ENST00000247933.8:c.1854C>A	ENSP00000247933.4:p.Tyr618Ter
ENST00000247933.9:c.1854C>A	ENSP00000247933.4:p.Tyr618Ter
ENST00000514224.1:c.1458C>A	ENSP00000425081.1:p.Tyr486Ter
ENST00000514698.5:n.1965C>A
ENST00000652070.1:n.1910C>A
XM_006713882.2:c.1458C>A	XP_006713945.1:p.Tyr486Ter
XM_011513459.1:c.1920C>A	XP_011511761.1:p.Tyr640Ter
XM_011513460.1:c.1713C>A	XP_011511762.1:p.Tyr571Ter
XM_011513461.1:c.1647C>A	XP_011511763.1:p.Tyr549Ter
XM_011513461.2:c.1647C>A	XP_011511763.1:p.Tyr549Ter
XM_011513462.1:c.1566C>A	XP_011511764.1:p.Tyr522Ter
XM_011513463.1:c.1566C>A	XP_011511765.1:p.Tyr522Ter
XM_017008163.1:c.894C>A	XP_016863652.1:p.Tyr298Ter
XR_924947.1:n.2114C>A