Canonical Allele Identifier: CA145885

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92645
• ClinVar RCV Id: RCV000078395 ; RCV000340349 ; RCV000675602 ; RCV001543816 ; RCV001543815 ; RCV001543814
• dbSNP Id: rs6815946
• ExAC: 4:995305 T / C
• gnomAD v2: 4-995305-T-C
• gnomAD v3: 4-1001517-T-C
• gnomAD v4: 4-1001517-T-C
• MyVariant Identifiers: chr4:g.995305T>C (hg19) ; chr4:g.1001517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001517T>C , CM000666.2:g.1001517T>C	GRCh38
NC_000004.11:g.995305T>C , CM000666.1:g.995305T>C	GRCh37
NC_000004.10:g.985305T>C	NCBI36
NG_008103.1:g.19521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.543T>C	ENSP00000247933.4:p.Asn181=
ENST00000514224.2:c.543T>C MANE Select	ENSP00000425081.2:p.Asn181=
ENST00000652070.1:n.599T>C
ENST00000247933.8:c.543T>C	ENSP00000247933.4:p.Asn181=
ENST00000502910.5:c.402T>C	ENSP00000422952.1:p.Asn134=
ENST00000504568.5:c.503T>C
ENST00000509948.5:c.336T>C	ENSP00000424227.1:p.Asn112=
ENST00000514192.5:c.360T>C	ENSP00000423685.1:p.Asn120=
ENST00000514224.1:c.147T>C	ENSP00000425081.1:p.Asn49=
ENST00000514698.5:n.443T>C
NM_000203.4:c.543T>C	NP_000194.2:p.Asn181=
NR_110313.1:n.631T>C
XM_006713882.2:c.147T>C	XP_006713945.1:p.Asn49=
XM_011513459.1:c.402T>C	XP_011511761.1:p.Asn134=
XM_011513460.1:c.402T>C	XP_011511762.1:p.Asn134=
XM_011513461.1:c.336T>C	XP_011511763.1:p.Asn112=
XM_011513462.1:c.255T>C	XP_011511764.1:p.Asn85=
XM_011513463.1:c.255T>C	XP_011511765.1:p.Asn85=
XR_924947.1:n.612T>C
NM_000203.5:c.543T>C MANE Select	NP_000194.2:p.Asn181=
NM_001363576.1:c.147T>C	NP_001350505.1:p.Asn49=
XM_011513461.2:c.336T>C	XP_011511763.1:p.Asn112=
XM_017008163.1:c.-446T>C	XP_016863652.1:n.-446T>C