Canonical Allele Identifier: CA438057756

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2114160
• ClinVar RCV Id: RCV003029907
• dbSNP Id: rs374216702
• gnomAD v2: 4-996119-C-T
• gnomAD v3: 4-1002331-C-T
• gnomAD v4: 4-1002331-C-T
• MyVariant Identifiers: chr4:g.996119C>T (hg19) ; chr4:g.1002331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002331C>T , CM000666.2:g.1002331C>T	GRCh38
NC_000004.11:g.996119C>T , CM000666.1:g.996119C>T	GRCh37
NC_000004.10:g.986119C>T	NCBI36
NG_008103.1:g.20335C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1035C>T	ENSP00000247933.4:p.Leu345=
ENST00000514224.2:c.1035C>T MANE Select	ENSP00000425081.2:p.Leu345=
ENST00000652070.1:n.1091C>T
ENST00000247933.8:c.1035C>T	ENSP00000247933.4:p.Leu345=
ENST00000514224.1:c.639C>T	ENSP00000425081.1:p.Leu213=
ENST00000514698.5:n.1142C>T
NM_000203.4:c.1035C>T	NP_000194.2:p.Leu345=
NR_110313.1:n.1123C>T
XM_006713882.2:c.639C>T	XP_006713945.1:p.Leu213=
XM_011513459.1:c.1101C>T	XP_011511761.1:p.Leu367=
XM_011513460.1:c.894C>T	XP_011511762.1:p.Leu298=
XM_011513461.1:c.828C>T	XP_011511763.1:p.Leu276=
XM_011513462.1:c.747C>T	XP_011511764.1:p.Leu249=
XM_011513463.1:c.747C>T	XP_011511765.1:p.Leu249=
XR_924947.1:n.1104C>T
NM_000203.5:c.1035C>T MANE Select	NP_000194.2:p.Leu345=
NM_001363576.1:c.639C>T	NP_001350505.1:p.Leu213=
XM_011513461.2:c.828C>T	XP_011511763.1:p.Leu276=
XM_017008163.1:c.75C>T	XP_016863652.1:p.Leu25=