Canonical Allele Identifier: CA355964963

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997167C>G (hg19) ; chr4:g.1003379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003379C>G , CM000666.2:g.1003379C>G	GRCh38
NC_000004.11:g.997167C>G , CM000666.1:g.997167C>G	GRCh37
NC_000004.10:g.987167C>G	NCBI36
NG_008103.1:g.21383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1559C>G	ENSP00000247933.4:p.Ala520Gly
ENST00000514224.2:c.1559C>G MANE Select	ENSP00000425081.2:p.Ala520Gly
ENST00000652070.1:n.1615C>G
ENST00000247933.8:c.1559C>G	ENSP00000247933.4:p.Ala520Gly
ENST00000502829.1:n.548C>G
ENST00000514224.1:c.1163C>G	ENSP00000425081.1:p.Ala388Gly
ENST00000514698.5:n.1666C>G
NM_000203.4:c.1559C>G	NP_000194.2:p.Ala520Gly
NR_110313.1:n.1647C>G
XM_006713882.2:c.1163C>G	XP_006713945.1:p.Ala388Gly
XM_011513459.1:c.1625C>G	XP_011511761.1:p.Ala542Gly
XM_011513460.1:c.1418C>G	XP_011511762.1:p.Ala473Gly
XM_011513461.1:c.1352C>G	XP_011511763.1:p.Ala451Gly
XM_011513462.1:c.1271C>G	XP_011511764.1:p.Ala424Gly
XM_011513463.1:c.1271C>G	XP_011511765.1:p.Ala424Gly
XR_924947.1:n.1815C>G
NM_000203.5:c.1559C>G MANE Select	NP_000194.2:p.Ala520Gly
NM_001363576.1:c.1163C>G	NP_001350505.1:p.Ala388Gly
XM_011513461.2:c.1352C>G	XP_011511763.1:p.Ala451Gly
XM_017008163.1:c.599C>G	XP_016863652.1:p.Ala200Gly