Canonical Allele Identifier: CA438057581

Gene: IDUA

Linked Data

• dbSNP Id: rs1715127112
• gnomAD v3: 4-1002161-G-A
• gnomAD v4: 4-1002161-G-A
• MyVariant Identifiers: chr4:g.995949G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002161G>A , CM000666.2:g.1002161G>A	GRCh38
NC_000004.11:g.995949G>A , CM000666.1:g.995949G>A	GRCh37
NC_000004.10:g.985949G>A	NCBI36
NG_008103.1:g.20165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972G>A	ENSP00000247933.4:p.Lys324=
ENST00000514224.2:c.972G>A MANE Select	ENSP00000425081.2:p.Lys324=
ENST00000652070.1:n.1028G>A
ENST00000247933.8:c.972G>A	ENSP00000247933.4:p.Lys324=
ENST00000514224.1:c.576G>A	ENSP00000425081.1:p.Lys192=
ENST00000514698.5:n.972G>A
NM_000203.4:c.972G>A	NP_000194.2:p.Lys324=
NR_110313.1:n.1060G>A
XM_006713882.2:c.576G>A	XP_006713945.1:p.Lys192=
XM_011513459.1:c.931G>A	XP_011511761.1:p.Gly311Ser
XM_011513460.1:c.831G>A	XP_011511762.1:p.Lys277=
XM_011513461.1:c.765G>A	XP_011511763.1:p.Lys255=
XM_011513462.1:c.684G>A	XP_011511764.1:p.Lys228=
XM_011513463.1:c.684G>A	XP_011511765.1:p.Lys228=
XR_924947.1:n.1041G>A
NM_000203.5:c.972G>A MANE Select	NP_000194.2:p.Lys324=
NM_001363576.1:c.576G>A	NP_001350505.1:p.Lys192=
XM_011513461.2:c.765G>A	XP_011511763.1:p.Lys255=
XM_017008163.1:c.12G>A	XP_016863652.1:p.Lys4=