Canonical Allele Identifier: CA355961998

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001739-G-T
• MyVariant Identifiers: chr4:g.995527G>T (hg19) ; chr4:g.1001739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001739G>T , CM000666.2:g.1001739G>T	GRCh38
NC_000004.11:g.995527G>T , CM000666.1:g.995527G>T	GRCh37
NC_000004.10:g.985527G>T	NCBI36
NG_008103.1:g.19743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.650G>T	ENSP00000247933.4:p.Arg217Leu
ENST00000514224.2:c.650G>T MANE Select	ENSP00000425081.2:p.Arg217Leu
ENST00000652070.1:n.706G>T
ENST00000247933.8:c.650G>T	ENSP00000247933.4:p.Arg217Leu
ENST00000502910.5:c.509G>T	ENSP00000422952.1:p.Arg170Leu
ENST00000509948.5:c.443G>T	ENSP00000424227.1:p.Arg148Leu
ENST00000514192.5:c.467G>T	ENSP00000423685.1:p.Arg156Leu
ENST00000514224.1:c.254G>T	ENSP00000425081.1:p.Arg85Leu
ENST00000514698.5:n.550G>T
NM_000203.4:c.650G>T	NP_000194.2:p.Arg217Leu
NR_110313.1:n.738G>T
XM_006713882.2:c.254G>T	XP_006713945.1:p.Arg85Leu
XM_011513459.1:c.509G>T	XP_011511761.1:p.Arg170Leu
XM_011513460.1:c.509G>T	XP_011511762.1:p.Arg170Leu
XM_011513461.1:c.443G>T	XP_011511763.1:p.Arg148Leu
XM_011513462.1:c.362G>T	XP_011511764.1:p.Arg121Leu
XM_011513463.1:c.362G>T	XP_011511765.1:p.Arg121Leu
XR_924947.1:n.719G>T
NM_000203.5:c.650G>T MANE Select	NP_000194.2:p.Arg217Leu
NM_001363576.1:c.254G>T	NP_001350505.1:p.Arg85Leu
XM_011513461.2:c.443G>T	XP_011511763.1:p.Arg148Leu
XM_017008163.1:c.-311G>T	XP_016863652.1:n.-311G>T