Canonical Allele Identifier: CA355962297

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001986-C-T
• MyVariant Identifiers: chr4:g.995774C>T (hg19) ; chr4:g.1001986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001986C>T , CM000666.2:g.1001986C>T	GRCh38
NC_000004.11:g.995774C>T , CM000666.1:g.995774C>T	GRCh37
NC_000004.10:g.985774C>T	NCBI36
NG_008103.1:g.19990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.797C>T	ENSP00000247933.4:p.Ala266Val
ENST00000514224.2:c.797C>T MANE Select	ENSP00000425081.2:p.Ala266Val
ENST00000652070.1:n.853C>T
ENST00000247933.8:c.797C>T	ENSP00000247933.4:p.Ala266Val
ENST00000502910.5:c.656C>T	ENSP00000422952.1:p.Ala219Val
ENST00000514192.5:c.614C>T	ENSP00000423685.1:p.Ala205Val
ENST00000514224.1:c.401C>T	ENSP00000425081.1:p.Ala134Val
ENST00000514698.5:n.797C>T
NM_000203.4:c.797C>T	NP_000194.2:p.Ala266Val
NR_110313.1:n.885C>T
XM_006713882.2:c.401C>T	XP_006713945.1:p.Ala134Val
XM_011513459.1:c.756C>T	XP_011511761.1:p.Cys252=
XM_011513460.1:c.656C>T	XP_011511762.1:p.Ala219Val
XM_011513461.1:c.590C>T	XP_011511763.1:p.Ala197Val
XM_011513462.1:c.509C>T	XP_011511764.1:p.Ala170Val
XM_011513463.1:c.509C>T	XP_011511765.1:p.Ala170Val
XR_924947.1:n.866C>T
NM_000203.5:c.797C>T MANE Select	NP_000194.2:p.Ala266Val
NM_001363576.1:c.401C>T	NP_001350505.1:p.Ala134Val
XM_011513461.2:c.590C>T	XP_011511763.1:p.Ala197Val
XM_017008163.1:c.-164C>T	XP_016863652.1:n.-164C>T