Canonical Allele Identifier: CA355963577

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996546T>G (hg19) ; chr4:g.1002758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002758T>G , CM000666.2:g.1002758T>G	GRCh38
NC_000004.11:g.996546T>G , CM000666.1:g.996546T>G	GRCh37
NC_000004.10:g.986546T>G	NCBI36
NG_008103.1:g.20762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1216T>G	ENSP00000247933.4:p.Ser406Ala
ENST00000514224.2:c.1216T>G MANE Select	ENSP00000425081.2:p.Ser406Ala
ENST00000652070.1:n.1272T>G
ENST00000247933.8:c.1216T>G	ENSP00000247933.4:p.Ser406Ala
ENST00000502829.1:n.18T>G
ENST00000514224.1:c.820T>G	ENSP00000425081.1:p.Ser274Ala
ENST00000514698.5:n.1323T>G
NM_000203.4:c.1216T>G	NP_000194.2:p.Ser406Ala
NR_110313.1:n.1304T>G
XM_006713882.2:c.820T>G	XP_006713945.1:p.Ser274Ala
XM_011513459.1:c.1282T>G	XP_011511761.1:p.Ser428Ala
XM_011513460.1:c.1075T>G	XP_011511762.1:p.Ser359Ala
XM_011513461.1:c.1009T>G	XP_011511763.1:p.Ser337Ala
XM_011513462.1:c.928T>G	XP_011511764.1:p.Ser310Ala
XM_011513463.1:c.928T>G	XP_011511765.1:p.Ser310Ala
XR_924947.1:n.1285T>G
NM_000203.5:c.1216T>G MANE Select	NP_000194.2:p.Ser406Ala
NM_001363576.1:c.820T>G	NP_001350505.1:p.Ser274Ala
XM_011513461.2:c.1009T>G	XP_011511763.1:p.Ser337Ala
XM_017008163.1:c.256T>G	XP_016863652.1:p.Ser86Ala