Canonical Allele Identifier: CA2801997

Gene: IDUA

Linked Data

• ClinVar Variation Id: 287803
• ClinVar RCV Id: RCV000316333 ; RCV002518994
• dbSNP Id: rs575667885
• ExAC: 4:995343 C / G
• gnomAD v2: 4-995343-C-G
• gnomAD v3: 4-1001555-C-G
• gnomAD v4: 4-1001555-C-G
• MyVariant Identifiers: chr4:g.995343C>G (hg19) ; chr4:g.1001555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001555C>G , CM000666.2:g.1001555C>G	GRCh38
NC_000004.11:g.995343C>G , CM000666.1:g.995343C>G	GRCh37
NC_000004.10:g.985343C>G	NCBI36
NG_008103.1:g.19559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.581C>G	ENSP00000247933.4:p.Thr194Ser
ENST00000514224.2:c.581C>G MANE Select	ENSP00000425081.2:p.Thr194Ser
ENST00000652070.1:n.637C>G
ENST00000247933.8:c.581C>G	ENSP00000247933.4:p.Thr194Ser
ENST00000502910.5:c.440C>G	ENSP00000422952.1:p.Thr147Ser
ENST00000504568.5:c.541C>G
ENST00000509948.5:c.374C>G	ENSP00000424227.1:p.Thr125Ser
ENST00000514192.5:c.398C>G	ENSP00000423685.1:p.Thr133Ser
ENST00000514224.1:c.185C>G	ENSP00000425081.1:p.Thr62Ser
ENST00000514698.5:n.481C>G
NM_000203.4:c.581C>G	NP_000194.2:p.Thr194Ser
NR_110313.1:n.669C>G
XM_006713882.2:c.185C>G	XP_006713945.1:p.Thr62Ser
XM_011513459.1:c.440C>G	XP_011511761.1:p.Thr147Ser
XM_011513460.1:c.440C>G	XP_011511762.1:p.Thr147Ser
XM_011513461.1:c.374C>G	XP_011511763.1:p.Thr125Ser
XM_011513462.1:c.293C>G	XP_011511764.1:p.Thr98Ser
XM_011513463.1:c.293C>G	XP_011511765.1:p.Thr98Ser
XR_924947.1:n.650C>G
NM_000203.5:c.581C>G MANE Select	NP_000194.2:p.Thr194Ser
NM_001363576.1:c.185C>G	NP_001350505.1:p.Thr62Ser
XM_011513461.2:c.374C>G	XP_011511763.1:p.Thr125Ser
XM_017008163.1:c.-408C>G	XP_016863652.1:n.-408C>G