Canonical Allele Identifier: CA355962217

Gene: IDUA

Linked Data

• COSMIC: COSM5490726 ; COSM5490727
• MyVariant Identifiers: chr4:g.995637G>T (hg19) ; chr4:g.1001849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001849G>T , CM000666.2:g.1001849G>T	GRCh38
NC_000004.11:g.995637G>T , CM000666.1:g.995637G>T	GRCh37
NC_000004.10:g.985637G>T	NCBI36
NG_008103.1:g.19853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.760G>T	ENSP00000247933.4:p.Val254Leu
ENST00000514224.2:c.760G>T MANE Select	ENSP00000425081.2:p.Val254Leu
ENST00000652070.1:n.816G>T
ENST00000247933.8:c.760G>T	ENSP00000247933.4:p.Val254Leu
ENST00000502910.5:c.619G>T	ENSP00000422952.1:p.Val207Leu
ENST00000514192.5:c.577G>T	ENSP00000423685.1:p.Val193Leu
ENST00000514224.1:c.364G>T	ENSP00000425081.1:p.Val122Leu
ENST00000514698.5:n.660G>T
NM_000203.4:c.760G>T	NP_000194.2:p.Val254Leu
NR_110313.1:n.848G>T
XM_006713882.2:c.364G>T	XP_006713945.1:p.Val122Leu
XM_011513459.1:c.619G>T	XP_011511761.1:p.Val207Leu
XM_011513460.1:c.619G>T	XP_011511762.1:p.Val207Leu
XM_011513461.1:c.553G>T	XP_011511763.1:p.Val185Leu
XM_011513462.1:c.472G>T	XP_011511764.1:p.Val158Leu
XM_011513463.1:c.472G>T	XP_011511765.1:p.Val158Leu
XR_924947.1:n.829G>T
NM_000203.5:c.760G>T MANE Select	NP_000194.2:p.Val254Leu
NM_001363576.1:c.364G>T	NP_001350505.1:p.Val122Leu
XM_011513461.2:c.553G>T	XP_011511763.1:p.Val185Leu
XM_017008163.1:c.-201G>T	XP_016863652.1:n.-201G>T