Canonical Allele Identifier: CA438057663

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996081C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002293C>T , CM000666.2:g.1002293C>T	GRCh38
NC_000004.11:g.996081C>T , CM000666.1:g.996081C>T	GRCh37
NC_000004.10:g.986081C>T	NCBI36
NG_008103.1:g.20297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.997C>T	ENSP00000247933.4:p.Leu333=
ENST00000514224.2:c.997C>T MANE Select	ENSP00000425081.2:p.Leu333=
ENST00000652070.1:n.1053C>T
ENST00000247933.8:c.997C>T	ENSP00000247933.4:p.Leu333=
ENST00000514224.1:c.601C>T	ENSP00000425081.1:p.Leu201=
ENST00000514698.5:n.1104C>T
NM_000203.4:c.997C>T	NP_000194.2:p.Leu333=
NR_110313.1:n.1085C>T
XM_006713882.2:c.601C>T	XP_006713945.1:p.Leu201=
XM_011513459.1:c.1063C>T	XP_011511761.1:p.Leu355=
XM_011513460.1:c.856C>T	XP_011511762.1:p.Leu286=
XM_011513461.1:c.790C>T	XP_011511763.1:p.Leu264=
XM_011513462.1:c.709C>T	XP_011511764.1:p.Leu237=
XM_011513463.1:c.709C>T	XP_011511765.1:p.Leu237=
XR_924947.1:n.1066C>T
NM_000203.5:c.997C>T MANE Select	NP_000194.2:p.Leu333=
NM_001363576.1:c.601C>T	NP_001350505.1:p.Leu201=
XM_011513461.2:c.790C>T	XP_011511763.1:p.Leu264=
XM_017008163.1:c.37C>T	XP_016863652.1:p.Leu13=