Canonical Allele Identifier: CA91168084

Gene: IDUA

Linked Data

• ClinVar Variation Id: 745487
• ClinVar RCV Id: RCV000922034 ; RCV003169315
• dbSNP Id: rs965929339
• gnomAD v2: 4-995642-G-C
• gnomAD v3: 4-1001854-G-C
• gnomAD v4: 4-1001854-G-C
• MyVariant Identifiers: chr4:g.995642G>C (hg19) ; chr4:g.1001854G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001854G>C , CM000666.2:g.1001854G>C	GRCh38
NC_000004.11:g.995642G>C , CM000666.1:g.995642G>C	GRCh37
NC_000004.10:g.985642G>C	NCBI36
NG_008103.1:g.19858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.765G>C	ENSP00000247933.4:p.Arg255=
ENST00000514224.2:c.765G>C MANE Select	ENSP00000425081.2:p.Arg255=
ENST00000652070.1:n.821G>C
ENST00000247933.8:c.765G>C	ENSP00000247933.4:p.Arg255=
ENST00000502910.5:c.624G>C	ENSP00000422952.1:p.Arg208=
ENST00000514192.5:c.582G>C	ENSP00000423685.1:p.Arg194=
ENST00000514224.1:c.369G>C	ENSP00000425081.1:p.Arg123=
ENST00000514698.5:n.665G>C
NM_000203.4:c.765G>C	NP_000194.2:p.Arg255=
NR_110313.1:n.853G>C
XM_006713882.2:c.369G>C	XP_006713945.1:p.Arg123=
XM_011513459.1:c.624G>C	XP_011511761.1:p.Arg208=
XM_011513460.1:c.624G>C	XP_011511762.1:p.Arg208=
XM_011513461.1:c.558G>C	XP_011511763.1:p.Arg186=
XM_011513462.1:c.477G>C	XP_011511764.1:p.Arg159=
XM_011513463.1:c.477G>C	XP_011511765.1:p.Arg159=
XR_924947.1:n.834G>C
NM_000203.5:c.765G>C MANE Select	NP_000194.2:p.Arg255=
NM_001363576.1:c.369G>C	NP_001350505.1:p.Arg123=
XM_011513461.2:c.558G>C	XP_011511763.1:p.Arg186=
XM_017008163.1:c.-196G>C	XP_016863652.1:n.-196G>C