Canonical Allele Identifier: CA355962221

Gene: IDUA

Linked Data

• dbSNP Id: rs1445946287
• gnomAD v2: 4-995641-G-A
• gnomAD v4: 4-1001853-G-A
• MyVariant Identifiers: chr4:g.995641G>A (hg19) ; chr4:g.1001853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001853G>A , CM000666.2:g.1001853G>A	GRCh38
NC_000004.11:g.995641G>A , CM000666.1:g.995641G>A	GRCh37
NC_000004.10:g.985641G>A	NCBI36
NG_008103.1:g.19857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.764G>A	ENSP00000247933.4:p.Arg255Gln
ENST00000514224.2:c.764G>A MANE Select	ENSP00000425081.2:p.Arg255Gln
ENST00000652070.1:n.820G>A
ENST00000247933.8:c.764G>A	ENSP00000247933.4:p.Arg255Gln
ENST00000502910.5:c.623G>A	ENSP00000422952.1:p.Arg208Gln
ENST00000514192.5:c.581G>A	ENSP00000423685.1:p.Arg194Gln
ENST00000514224.1:c.368G>A	ENSP00000425081.1:p.Arg123Gln
ENST00000514698.5:n.664G>A
NM_000203.4:c.764G>A	NP_000194.2:p.Arg255Gln
NR_110313.1:n.852G>A
XM_006713882.2:c.368G>A	XP_006713945.1:p.Arg123Gln
XM_011513459.1:c.623G>A	XP_011511761.1:p.Arg208Gln
XM_011513460.1:c.623G>A	XP_011511762.1:p.Arg208Gln
XM_011513461.1:c.557G>A	XP_011511763.1:p.Arg186Gln
XM_011513462.1:c.476G>A	XP_011511764.1:p.Arg159Gln
XM_011513463.1:c.476G>A	XP_011511765.1:p.Arg159Gln
XR_924947.1:n.833G>A
NM_000203.5:c.764G>A MANE Select	NP_000194.2:p.Arg255Gln
NM_001363576.1:c.368G>A	NP_001350505.1:p.Arg123Gln
XM_011513461.2:c.557G>A	XP_011511763.1:p.Arg186Gln
XM_017008163.1:c.-197G>A	XP_016863652.1:n.-197G>A