Canonical Allele Identifier: CA355963496

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996270C>G (hg19) ; chr4:g.1002482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002482C>G , CM000666.2:g.1002482C>G	GRCh38
NC_000004.11:g.996270C>G , CM000666.1:g.996270C>G	GRCh37
NC_000004.10:g.986270C>G	NCBI36
NG_008103.1:g.20486C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1186C>G	ENSP00000247933.4:p.Leu396Val
ENST00000514224.2:c.1186C>G MANE Select	ENSP00000425081.2:p.Leu396Val
ENST00000652070.1:n.1242C>G
ENST00000247933.8:c.1186C>G	ENSP00000247933.4:p.Leu396Val
ENST00000514224.1:c.790C>G	ENSP00000425081.1:p.Leu264Val
ENST00000514698.5:n.1293C>G
NM_000203.4:c.1186C>G	NP_000194.2:p.Leu396Val
NR_110313.1:n.1274C>G
XM_006713882.2:c.790C>G	XP_006713945.1:p.Leu264Val
XM_011513459.1:c.1252C>G	XP_011511761.1:p.Leu418Val
XM_011513460.1:c.1045C>G	XP_011511762.1:p.Leu349Val
XM_011513461.1:c.979C>G	XP_011511763.1:p.Leu327Val
XM_011513462.1:c.898C>G	XP_011511764.1:p.Leu300Val
XM_011513463.1:c.898C>G	XP_011511765.1:p.Leu300Val
XR_924947.1:n.1255C>G
NM_000203.5:c.1186C>G MANE Select	NP_000194.2:p.Leu396Val
NM_001363576.1:c.790C>G	NP_001350505.1:p.Leu264Val
XM_011513461.2:c.979C>G	XP_011511763.1:p.Leu327Val
XM_017008163.1:c.226C>G	XP_016863652.1:p.Leu76Val