Canonical Allele Identifier: CA438057421

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001996-C-T
• MyVariant Identifiers: chr4:g.995784C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001996C>T , CM000666.2:g.1001996C>T	GRCh38
NC_000004.11:g.995784C>T , CM000666.1:g.995784C>T	GRCh37
NC_000004.10:g.985784C>T	NCBI36
NG_008103.1:g.20000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.807C>T	ENSP00000247933.4:p.Ser269=
ENST00000514224.2:c.807C>T MANE Select	ENSP00000425081.2:p.Ser269=
ENST00000652070.1:n.863C>T
ENST00000247933.8:c.807C>T	ENSP00000247933.4:p.Ser269=
ENST00000502910.5:c.666C>T	ENSP00000422952.1:p.Ser222=
ENST00000514192.5:c.624C>T	ENSP00000423685.1:p.Ser208=
ENST00000514224.1:c.411C>T	ENSP00000425081.1:p.Ser137=
ENST00000514698.5:n.807C>T
NM_000203.4:c.807C>T	NP_000194.2:p.Ser269=
NR_110313.1:n.895C>T
XM_006713882.2:c.411C>T	XP_006713945.1:p.Ser137=
XM_011513459.1:c.766C>T	XP_011511761.1:p.His256Tyr
XM_011513460.1:c.666C>T	XP_011511762.1:p.Ser222=
XM_011513461.1:c.600C>T	XP_011511763.1:p.Ser200=
XM_011513462.1:c.519C>T	XP_011511764.1:p.Ser173=
XM_011513463.1:c.519C>T	XP_011511765.1:p.Ser173=
XR_924947.1:n.876C>T
NM_000203.5:c.807C>T MANE Select	NP_000194.2:p.Ser269=
NM_001363576.1:c.411C>T	NP_001350505.1:p.Ser137=
XM_011513461.2:c.600C>T	XP_011511763.1:p.Ser200=
XM_017008163.1:c.-154C>T	XP_016863652.1:n.-154C>T