Canonical Allele Identifier: CA355962980

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996076A>G (hg19) ; chr4:g.1002288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002288A>G , CM000666.2:g.1002288A>G	GRCh38
NC_000004.11:g.996076A>G , CM000666.1:g.996076A>G	GRCh37
NC_000004.10:g.986076A>G	NCBI36
NG_008103.1:g.20292A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.992A>G	ENSP00000247933.4:p.Asn331Ser
ENST00000514224.2:c.992A>G MANE Select	ENSP00000425081.2:p.Asn331Ser
ENST00000652070.1:n.1048A>G
ENST00000247933.8:c.992A>G	ENSP00000247933.4:p.Asn331Ser
ENST00000514224.1:c.596A>G	ENSP00000425081.1:p.Asn199Ser
ENST00000514698.5:n.1099A>G
NM_000203.4:c.992A>G	NP_000194.2:p.Asn331Ser
NR_110313.1:n.1080A>G
XM_006713882.2:c.596A>G	XP_006713945.1:p.Asn199Ser
XM_011513459.1:c.1058A>G	XP_011511761.1:p.Asn353Ser
XM_011513460.1:c.851A>G	XP_011511762.1:p.Asn284Ser
XM_011513461.1:c.785A>G	XP_011511763.1:p.Asn262Ser
XM_011513462.1:c.704A>G	XP_011511764.1:p.Asn235Ser
XM_011513463.1:c.704A>G	XP_011511765.1:p.Asn235Ser
XR_924947.1:n.1061A>G
NM_000203.5:c.992A>G MANE Select	NP_000194.2:p.Asn331Ser
NM_001363576.1:c.596A>G	NP_001350505.1:p.Asn199Ser
XM_011513461.2:c.785A>G	XP_011511763.1:p.Asn262Ser
XM_017008163.1:c.32A>G	XP_016863652.1:p.Asn11Ser