Canonical Allele Identifier: CA355962234

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001860-C-G
• MyVariant Identifiers: chr4:g.995648C>G (hg19) ; chr4:g.1001860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001860C>G , CM000666.2:g.1001860C>G	GRCh38
NC_000004.11:g.995648C>G , CM000666.1:g.995648C>G	GRCh37
NC_000004.10:g.985648C>G	NCBI36
NG_008103.1:g.19864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.771C>G	ENSP00000247933.4:p.Asp257Glu
ENST00000514224.2:c.771C>G MANE Select	ENSP00000425081.2:p.Asp257Glu
ENST00000652070.1:n.827C>G
ENST00000247933.8:c.771C>G	ENSP00000247933.4:p.Asp257Glu
ENST00000502910.5:c.630C>G	ENSP00000422952.1:p.Asp210Glu
ENST00000514192.5:c.588C>G	ENSP00000423685.1:p.Asp196Glu
ENST00000514224.1:c.375C>G	ENSP00000425081.1:p.Asp125Glu
ENST00000514698.5:n.671C>G
NM_000203.4:c.771C>G	NP_000194.2:p.Asp257Glu
NR_110313.1:n.859C>G
XM_006713882.2:c.375C>G	XP_006713945.1:p.Asp125Glu
XM_011513459.1:c.630C>G	XP_011511761.1:p.Asp210Glu
XM_011513460.1:c.630C>G	XP_011511762.1:p.Asp210Glu
XM_011513461.1:c.564C>G	XP_011511763.1:p.Asp188Glu
XM_011513462.1:c.483C>G	XP_011511764.1:p.Asp161Glu
XM_011513463.1:c.483C>G	XP_011511765.1:p.Asp161Glu
XR_924947.1:n.840C>G
NM_000203.5:c.771C>G MANE Select	NP_000194.2:p.Asp257Glu
NM_001363576.1:c.375C>G	NP_001350505.1:p.Asp125Glu
XM_011513461.2:c.564C>G	XP_011511763.1:p.Asp188Glu
XM_017008163.1:c.-190C>G	XP_016863652.1:n.-190C>G