Canonical Allele Identifier: CA438057609

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002745-C-T
• MyVariant Identifiers: chr4:g.996533C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002745C>T , CM000666.2:g.1002745C>T	GRCh38
NC_000004.11:g.996533C>T , CM000666.1:g.996533C>T	GRCh37
NC_000004.10:g.986533C>T	NCBI36
NG_008103.1:g.20749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1203C>T	ENSP00000247933.4:p.Leu401=
ENST00000514224.2:c.1203C>T MANE Select	ENSP00000425081.2:p.Leu401=
ENST00000652070.1:n.1259C>T
ENST00000247933.8:c.1203C>T	ENSP00000247933.4:p.Leu401=
ENST00000502829.1:n.5C>T
ENST00000514224.1:c.807C>T	ENSP00000425081.1:p.Leu269=
ENST00000514698.5:n.1310C>T
NM_000203.4:c.1203C>T	NP_000194.2:p.Leu401=
NR_110313.1:n.1291C>T
XM_006713882.2:c.807C>T	XP_006713945.1:p.Leu269=
XM_011513459.1:c.1269C>T	XP_011511761.1:p.Leu423=
XM_011513460.1:c.1062C>T	XP_011511762.1:p.Leu354=
XM_011513461.1:c.996C>T	XP_011511763.1:p.Leu332=
XM_011513462.1:c.915C>T	XP_011511764.1:p.Leu305=
XM_011513463.1:c.915C>T	XP_011511765.1:p.Leu305=
XR_924947.1:n.1272C>T
NM_000203.5:c.1203C>T MANE Select	NP_000194.2:p.Leu401=
NM_001363576.1:c.807C>T	NP_001350505.1:p.Leu269=
XM_011513461.2:c.996C>T	XP_011511763.1:p.Leu332=
XM_017008163.1:c.243C>T	XP_016863652.1:p.Leu81=