Canonical Allele Identifier: CA355962829

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002148-C-A
• MyVariant Identifiers: chr4:g.995936C>A (hg19) ; chr4:g.1002148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002148C>A , CM000666.2:g.1002148C>A	GRCh38
NC_000004.11:g.995936C>A , CM000666.1:g.995936C>A	GRCh37
NC_000004.10:g.985936C>A	NCBI36
NG_008103.1:g.20152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.959C>A	ENSP00000247933.4:p.Ala320Asp
ENST00000514224.2:c.959C>A MANE Select	ENSP00000425081.2:p.Ala320Asp
ENST00000652070.1:n.1015C>A
ENST00000247933.8:c.959C>A	ENSP00000247933.4:p.Ala320Asp
ENST00000514224.1:c.563C>A	ENSP00000425081.1:p.Ala188Asp
ENST00000514698.5:n.959C>A
NM_000203.4:c.959C>A	NP_000194.2:p.Ala320Asp
NR_110313.1:n.1047C>A
XM_006713882.2:c.563C>A	XP_006713945.1:p.Ala188Asp
XM_011513459.1:c.918C>A	XP_011511761.1:p.Gly306=
XM_011513460.1:c.818C>A	XP_011511762.1:p.Ala273Asp
XM_011513461.1:c.752C>A	XP_011511763.1:p.Ala251Asp
XM_011513462.1:c.671C>A	XP_011511764.1:p.Ala224Asp
XM_011513463.1:c.671C>A	XP_011511765.1:p.Ala224Asp
XR_924947.1:n.1028C>A
NM_000203.5:c.959C>A MANE Select	NP_000194.2:p.Ala320Asp
NM_001363576.1:c.563C>A	NP_001350505.1:p.Ala188Asp
XM_011513461.2:c.752C>A	XP_011511763.1:p.Ala251Asp
XM_017008163.1:c.-2C>A	XP_016863652.1:n.-2C>A