Canonical Allele Identifier: CA438057367

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001855-C-T
• MyVariant Identifiers: chr4:g.995643C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001855C>T , CM000666.2:g.1001855C>T	GRCh38
NC_000004.11:g.995643C>T , CM000666.1:g.995643C>T	GRCh37
NC_000004.10:g.985643C>T	NCBI36
NG_008103.1:g.19859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.766C>T	ENSP00000247933.4:p.Leu256=
ENST00000514224.2:c.766C>T MANE Select	ENSP00000425081.2:p.Leu256=
ENST00000652070.1:n.822C>T
ENST00000247933.8:c.766C>T	ENSP00000247933.4:p.Leu256=
ENST00000502910.5:c.625C>T	ENSP00000422952.1:p.Leu209=
ENST00000514192.5:c.583C>T	ENSP00000423685.1:p.Leu195=
ENST00000514224.1:c.370C>T	ENSP00000425081.1:p.Leu124=
ENST00000514698.5:n.666C>T
NM_000203.4:c.766C>T	NP_000194.2:p.Leu256=
NR_110313.1:n.854C>T
XM_006713882.2:c.370C>T	XP_006713945.1:p.Leu124=
XM_011513459.1:c.625C>T	XP_011511761.1:p.Leu209=
XM_011513460.1:c.625C>T	XP_011511762.1:p.Leu209=
XM_011513461.1:c.559C>T	XP_011511763.1:p.Leu187=
XM_011513462.1:c.478C>T	XP_011511764.1:p.Leu160=
XM_011513463.1:c.478C>T	XP_011511765.1:p.Leu160=
XR_924947.1:n.835C>T
NM_000203.5:c.766C>T MANE Select	NP_000194.2:p.Leu256=
NM_001363576.1:c.370C>T	NP_001350505.1:p.Leu124=
XM_011513461.2:c.559C>T	XP_011511763.1:p.Leu187=
XM_017008163.1:c.-195C>T	XP_016863652.1:n.-195C>T