Canonical Allele Identifier: CA438057738

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996591C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002803C>T , CM000666.2:g.1002803C>T	GRCh38
NC_000004.11:g.996591C>T , CM000666.1:g.996591C>T	GRCh37
NC_000004.10:g.986591C>T	NCBI36
NG_008103.1:g.20807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1261C>T	ENSP00000247933.4:p.Leu421=
ENST00000514224.2:c.1261C>T MANE Select	ENSP00000425081.2:p.Leu421=
ENST00000652070.1:n.1317C>T
ENST00000247933.8:c.1261C>T	ENSP00000247933.4:p.Leu421=
ENST00000502829.1:n.63C>T
ENST00000514224.1:c.865C>T	ENSP00000425081.1:p.Leu289=
ENST00000514698.5:n.1368C>T
NM_000203.4:c.1261C>T	NP_000194.2:p.Leu421=
NR_110313.1:n.1349C>T
XM_006713882.2:c.865C>T	XP_006713945.1:p.Leu289=
XM_011513459.1:c.1327C>T	XP_011511761.1:p.Leu443=
XM_011513460.1:c.1120C>T	XP_011511762.1:p.Leu374=
XM_011513461.1:c.1054C>T	XP_011511763.1:p.Leu352=
XM_011513462.1:c.973C>T	XP_011511764.1:p.Leu325=
XM_011513463.1:c.973C>T	XP_011511765.1:p.Leu325=
XR_924947.1:n.1330C>T
NM_000203.5:c.1261C>T MANE Select	NP_000194.2:p.Leu421=
NM_001363576.1:c.865C>T	NP_001350505.1:p.Leu289=
XM_011513461.2:c.1054C>T	XP_011511763.1:p.Leu352=
XM_017008163.1:c.301C>T	XP_016863652.1:p.Leu101=