Canonical Allele Identifier: CA355963528

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002737-G-T
• MyVariant Identifiers: chr4:g.996525G>T (hg19) ; chr4:g.1002737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002737G>T , CM000666.2:g.1002737G>T	GRCh38
NC_000004.11:g.996525G>T , CM000666.1:g.996525G>T	GRCh37
NC_000004.10:g.986525G>T	NCBI36
NG_008103.1:g.20741G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1195G>T	ENSP00000247933.4:p.Glu399Ter
ENST00000514224.2:c.1195G>T MANE Select	ENSP00000425081.2:p.Glu399Ter
ENST00000652070.1:n.1251G>T
ENST00000247933.8:c.1195G>T	ENSP00000247933.4:p.Glu399Ter
ENST00000514224.1:c.799G>T	ENSP00000425081.1:p.Glu267Ter
ENST00000514698.5:n.1302G>T
NM_000203.4:c.1195G>T	NP_000194.2:p.Glu399Ter
NR_110313.1:n.1283G>T
XM_006713882.2:c.799G>T	XP_006713945.1:p.Glu267Ter
XM_011513459.1:c.1261G>T	XP_011511761.1:p.Glu421Ter
XM_011513460.1:c.1054G>T	XP_011511762.1:p.Glu352Ter
XM_011513461.1:c.988G>T	XP_011511763.1:p.Glu330Ter
XM_011513462.1:c.907G>T	XP_011511764.1:p.Glu303Ter
XM_011513463.1:c.907G>T	XP_011511765.1:p.Glu303Ter
XR_924947.1:n.1264G>T
NM_000203.5:c.1195G>T MANE Select	NP_000194.2:p.Glu399Ter
NM_001363576.1:c.799G>T	NP_001350505.1:p.Glu267Ter
XM_011513461.2:c.988G>T	XP_011511763.1:p.Glu330Ter
XM_017008163.1:c.235G>T	XP_016863652.1:p.Glu79Ter