Canonical Allele Identifier: CA438057654

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996078C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002290C>T , CM000666.2:g.1002290C>T	GRCh38
NC_000004.11:g.996078C>T , CM000666.1:g.996078C>T	GRCh37
NC_000004.10:g.986078C>T	NCBI36
NG_008103.1:g.20294C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.994C>T	ENSP00000247933.4:p.Leu332=
ENST00000514224.2:c.994C>T MANE Select	ENSP00000425081.2:p.Leu332=
ENST00000652070.1:n.1050C>T
ENST00000247933.8:c.994C>T	ENSP00000247933.4:p.Leu332=
ENST00000514224.1:c.598C>T	ENSP00000425081.1:p.Leu200=
ENST00000514698.5:n.1101C>T
NM_000203.4:c.994C>T	NP_000194.2:p.Leu332=
NR_110313.1:n.1082C>T
XM_006713882.2:c.598C>T	XP_006713945.1:p.Leu200=
XM_011513459.1:c.1060C>T	XP_011511761.1:p.Leu354=
XM_011513460.1:c.853C>T	XP_011511762.1:p.Leu285=
XM_011513461.1:c.787C>T	XP_011511763.1:p.Leu263=
XM_011513462.1:c.706C>T	XP_011511764.1:p.Leu236=
XM_011513463.1:c.706C>T	XP_011511765.1:p.Leu236=
XR_924947.1:n.1063C>T
NM_000203.5:c.994C>T MANE Select	NP_000194.2:p.Leu332=
NM_001363576.1:c.598C>T	NP_001350505.1:p.Leu200=
XM_011513461.2:c.787C>T	XP_011511763.1:p.Leu263=
XM_017008163.1:c.34C>T	XP_016863652.1:p.Leu12=