Canonical Allele Identifier: CA91168580

Gene: IDUA

Linked Data

• ClinVar Variation Id: 794992
• ClinVar RCV Id: RCV001273791
• dbSNP Id: rs748350723
• gnomAD v2: 4-995934-G-C
• gnomAD v3: 4-1002146-G-C
• gnomAD v4: 4-1002146-G-C
• MyVariant Identifiers: chr4:g.995934G>C (hg19) ; chr4:g.1002146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002146G>C , CM000666.2:g.1002146G>C	GRCh38
NC_000004.11:g.995934G>C , CM000666.1:g.995934G>C	GRCh37
NC_000004.10:g.985934G>C	NCBI36
NG_008103.1:g.20150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.957G>C	ENSP00000247933.4:p.Ala319=
ENST00000514224.2:c.957G>C MANE Select	ENSP00000425081.2:p.Ala319=
ENST00000652070.1:n.1013G>C
ENST00000247933.8:c.957G>C	ENSP00000247933.4:p.Ala319=
ENST00000514224.1:c.561G>C	ENSP00000425081.1:p.Ala187=
ENST00000514698.5:n.957G>C
NM_000203.4:c.957G>C	NP_000194.2:p.Ala319=
NR_110313.1:n.1045G>C
XM_006713882.2:c.561G>C	XP_006713945.1:p.Ala187=
XM_011513459.1:c.916G>C	XP_011511761.1:p.Gly306Arg
XM_011513460.1:c.816G>C	XP_011511762.1:p.Ala272=
XM_011513461.1:c.750G>C	XP_011511763.1:p.Ala250=
XM_011513462.1:c.669G>C	XP_011511764.1:p.Ala223=
XM_011513463.1:c.669G>C	XP_011511765.1:p.Ala223=
XR_924947.1:n.1026G>C
NM_000203.5:c.957G>C MANE Select	NP_000194.2:p.Ala319=
NM_001363576.1:c.561G>C	NP_001350505.1:p.Ala187=
XM_011513461.2:c.750G>C	XP_011511763.1:p.Ala250=
XM_017008163.1:c.-4G>C	XP_016863652.1:n.-4G>C