Canonical Allele Identifier: CA91169972

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002813C>T , CM000666.2:g.1002813C>T	GRCh38
NC_000004.11:g.996601C>T , CM000666.1:g.996601C>T	GRCh37
NC_000004.10:g.986601C>T	NCBI36
NG_008103.1:g.20817C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1271C>T MANE Select	NP_000194.2:p.Ala424Val
ENST00000514224.2:c.1271C>T MANE Select	ENSP00000425081.2:p.Ala424Val
NM_000203.4:c.1271C>T	NP_000194.2:p.Ala424Val
NM_001363576.1:c.875C>T	NP_001350505.1:p.Ala292Val
NR_110313.1:n.1359C>T
ENST00000247933.8:c.1271C>T	ENSP00000247933.4:p.Ala424Val
ENST00000247933.9:c.1271C>T	ENSP00000247933.4:p.Ala424Val
ENST00000502829.1:n.73C>T
ENST00000514224.1:c.875C>T	ENSP00000425081.1:p.Ala292Val
ENST00000514698.5:n.1378C>T
ENST00000652070.1:n.1327C>T
XM_006713882.2:c.875C>T	XP_006713945.1:p.Ala292Val
XM_011513459.1:c.1337C>T	XP_011511761.1:p.Ala446Val
XM_011513460.1:c.1130C>T	XP_011511762.1:p.Ala377Val
XM_011513461.1:c.1064C>T	XP_011511763.1:p.Ala355Val
XM_011513461.2:c.1064C>T	XP_011511763.1:p.Ala355Val
XM_011513462.1:c.983C>T	XP_011511764.1:p.Ala328Val
XM_011513463.1:c.983C>T	XP_011511765.1:p.Ala328Val
XM_017008163.1:c.311C>T	XP_016863652.1:p.Ala104Val
XR_924947.1:n.1340C>T