Canonical Allele Identifier: CA355961864

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995472C>G (hg19) ; chr4:g.1001684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001684C>G , CM000666.2:g.1001684C>G	GRCh38
NC_000004.11:g.995472C>G , CM000666.1:g.995472C>G	GRCh37
NC_000004.10:g.985472C>G	NCBI36
NG_008103.1:g.19688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.595C>G	ENSP00000247933.4:p.Leu199Val
ENST00000514224.2:c.595C>G MANE Select	ENSP00000425081.2:p.Leu199Val
ENST00000652070.1:n.651C>G
ENST00000247933.8:c.595C>G	ENSP00000247933.4:p.Leu199Val
ENST00000502910.5:c.454C>G	ENSP00000422952.1:p.Leu152Val
ENST00000504568.5:c.555C>G
ENST00000509948.5:c.388C>G	ENSP00000424227.1:p.Leu130Val
ENST00000514192.5:c.412C>G	ENSP00000423685.1:p.Leu138Val
ENST00000514224.1:c.199C>G	ENSP00000425081.1:p.Leu67Val
ENST00000514698.5:n.495C>G
NM_000203.4:c.595C>G	NP_000194.2:p.Leu199Val
NR_110313.1:n.683C>G
XM_006713882.2:c.199C>G	XP_006713945.1:p.Leu67Val
XM_011513459.1:c.454C>G	XP_011511761.1:p.Leu152Val
XM_011513460.1:c.454C>G	XP_011511762.1:p.Leu152Val
XM_011513461.1:c.388C>G	XP_011511763.1:p.Leu130Val
XM_011513462.1:c.307C>G	XP_011511764.1:p.Leu103Val
XM_011513463.1:c.307C>G	XP_011511765.1:p.Leu103Val
XR_924947.1:n.664C>G
NM_000203.5:c.595C>G MANE Select	NP_000194.2:p.Leu199Val
NM_001363576.1:c.199C>G	NP_001350505.1:p.Leu67Val
XM_011513461.2:c.388C>G	XP_011511763.1:p.Leu130Val
XM_017008163.1:c.-366C>G	XP_016863652.1:n.-366C>G