Canonical Allele Identifier: CA438057551

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1156722
• ClinVar RCV Id: RCV001499507
• dbSNP Id: rs1256735931
• gnomAD v3: 4-1002134-C-T
• gnomAD v4: 4-1002134-C-T
• MyVariant Identifiers: chr4:g.995922C>T (hg19) ; chr4:g.1002134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002134C>T , CM000666.2:g.1002134C>T	GRCh38
NC_000004.11:g.995922C>T , CM000666.1:g.995922C>T	GRCh37
NC_000004.10:g.985922C>T	NCBI36
NG_008103.1:g.20138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.945C>T	ENSP00000247933.4:p.Asp315=
ENST00000514224.2:c.945C>T MANE Select	ENSP00000425081.2:p.Asp315=
ENST00000652070.1:n.1001C>T
ENST00000247933.8:c.945C>T	ENSP00000247933.4:p.Asp315=
ENST00000514224.1:c.549C>T	ENSP00000425081.1:p.Asp183=
ENST00000514698.5:n.945C>T
NM_000203.4:c.945C>T	NP_000194.2:p.Asp315=
NR_110313.1:n.1033C>T
XM_006713882.2:c.549C>T	XP_006713945.1:p.Asp183=
XM_011513459.1:c.904C>T	XP_011511761.1:p.Arg302Cys
XM_011513460.1:c.804C>T	XP_011511762.1:p.Asp268=
XM_011513461.1:c.738C>T	XP_011511763.1:p.Asp246=
XM_011513462.1:c.657C>T	XP_011511764.1:p.Asp219=
XM_011513463.1:c.657C>T	XP_011511765.1:p.Asp219=
XR_924947.1:n.1014C>T
NM_000203.5:c.945C>T MANE Select	NP_000194.2:p.Asp315=
NM_001363576.1:c.549C>T	NP_001350505.1:p.Asp183=
XM_011513461.2:c.738C>T	XP_011511763.1:p.Asp246=
XM_017008163.1:c.-16C>T	XP_016863652.1:n.-16C>T