Canonical Allele Identifier: CA355962391

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995819A>T (hg19) ; chr4:g.1002031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002031A>T , CM000666.2:g.1002031A>T	GRCh38
NC_000004.11:g.995819A>T , CM000666.1:g.995819A>T	GRCh37
NC_000004.10:g.985819A>T	NCBI36
NG_008103.1:g.20035A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.842A>T	ENSP00000247933.4:p.Gln281Leu
ENST00000514224.2:c.842A>T MANE Select	ENSP00000425081.2:p.Gln281Leu
ENST00000652070.1:n.898A>T
ENST00000247933.8:c.842A>T	ENSP00000247933.4:p.Gln281Leu
ENST00000514192.5:c.659A>T	ENSP00000423685.1:p.Gln220Leu
ENST00000514224.1:c.446A>T	ENSP00000425081.1:p.Gln149Leu
ENST00000514698.5:n.842A>T
NM_000203.4:c.842A>T	NP_000194.2:p.Gln281Leu
NR_110313.1:n.930A>T
XM_006713882.2:c.446A>T	XP_006713945.1:p.Gln149Leu
XM_011513459.1:c.801A>T	XP_011511761.1:p.Ala267=
XM_011513460.1:c.701A>T	XP_011511762.1:p.Gln234Leu
XM_011513461.1:c.635A>T	XP_011511763.1:p.Gln212Leu
XM_011513462.1:c.554A>T	XP_011511764.1:p.Gln185Leu
XM_011513463.1:c.554A>T	XP_011511765.1:p.Gln185Leu
XR_924947.1:n.911A>T
NM_000203.5:c.842A>T MANE Select	NP_000194.2:p.Gln281Leu
NM_001363576.1:c.446A>T	NP_001350505.1:p.Gln149Leu
XM_011513461.2:c.635A>T	XP_011511763.1:p.Gln212Leu
XM_017008163.1:c.-119A>T	XP_016863652.1:n.-119A>T