Canonical Allele Identifier: CA355962845

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995939T>G (hg19) ; chr4:g.1002151T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002151T>G , CM000666.2:g.1002151T>G	GRCh38
NC_000004.11:g.995939T>G , CM000666.1:g.995939T>G	GRCh37
NC_000004.10:g.985939T>G	NCBI36
NG_008103.1:g.20155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.962T>G	ENSP00000247933.4:p.Met321Arg
ENST00000514224.2:c.962T>G MANE Select	ENSP00000425081.2:p.Met321Arg
ENST00000652070.1:n.1018T>G
ENST00000247933.8:c.962T>G	ENSP00000247933.4:p.Met321Arg
ENST00000514224.1:c.566T>G	ENSP00000425081.1:p.Met189Arg
ENST00000514698.5:n.962T>G
NM_000203.4:c.962T>G	NP_000194.2:p.Met321Arg
NR_110313.1:n.1050T>G
XM_006713882.2:c.566T>G	XP_006713945.1:p.Met189Arg
XM_011513459.1:c.921T>G	XP_011511761.1:p.His307Gln
XM_011513460.1:c.821T>G	XP_011511762.1:p.Met274Arg
XM_011513461.1:c.755T>G	XP_011511763.1:p.Met252Arg
XM_011513462.1:c.674T>G	XP_011511764.1:p.Met225Arg
XM_011513463.1:c.674T>G	XP_011511765.1:p.Met225Arg
XR_924947.1:n.1031T>G
NM_000203.5:c.962T>G MANE Select	NP_000194.2:p.Met321Arg
NM_001363576.1:c.566T>G	NP_001350505.1:p.Met189Arg
XM_011513461.2:c.755T>G	XP_011511763.1:p.Met252Arg
XM_017008163.1:c.2T>G	XP_016863652.1:p.Met1Arg