Canonical Allele Identifier: CA355963297

Gene: IDUA

Linked Data

• dbSNP Id: rs765231968
• gnomAD v2: 4-996169-A-T
• gnomAD v3: 4-1002381-A-T
• gnomAD v4: 4-1002381-A-T
• MyVariant Identifiers: chr4:g.996169A>T (hg19) ; chr4:g.1002381A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002381A>T , CM000666.2:g.1002381A>T	GRCh38
NC_000004.11:g.996169A>T , CM000666.1:g.996169A>T	GRCh37
NC_000004.10:g.986169A>T	NCBI36
NG_008103.1:g.20385A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1085A>T	ENSP00000247933.4:p.Gln362Leu
ENST00000514224.2:c.1085A>T MANE Select	ENSP00000425081.2:p.Gln362Leu
ENST00000652070.1:n.1141A>T
ENST00000247933.8:c.1085A>T	ENSP00000247933.4:p.Gln362Leu
ENST00000514224.1:c.689A>T	ENSP00000425081.1:p.Gln230Leu
ENST00000514698.5:n.1192A>T
NM_000203.4:c.1085A>T	NP_000194.2:p.Gln362Leu
NR_110313.1:n.1173A>T
XM_006713882.2:c.689A>T	XP_006713945.1:p.Gln230Leu
XM_011513459.1:c.1151A>T	XP_011511761.1:p.Gln384Leu
XM_011513460.1:c.944A>T	XP_011511762.1:p.Gln315Leu
XM_011513461.1:c.878A>T	XP_011511763.1:p.Gln293Leu
XM_011513462.1:c.797A>T	XP_011511764.1:p.Gln266Leu
XM_011513463.1:c.797A>T	XP_011511765.1:p.Gln266Leu
XR_924947.1:n.1154A>T
NM_000203.5:c.1085A>T MANE Select	NP_000194.2:p.Gln362Leu
NM_001363576.1:c.689A>T	NP_001350505.1:p.Gln230Leu
XM_011513461.2:c.878A>T	XP_011511763.1:p.Gln293Leu
XM_017008163.1:c.125A>T	XP_016863652.1:p.Gln42Leu