Canonical Allele Identifier: CA91169792

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2147274
• ClinVar RCV Id: RCV003077105
• dbSNP Id: rs994233174
• gnomAD v2: 4-996503-C-T
• gnomAD v3: 4-1002715-C-T
• gnomAD v4: 4-1002715-C-T
• MyVariant Identifiers: chr4:g.996503C>T (hg19) ; chr4:g.1002715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002715C>T , CM000666.2:g.1002715C>T	GRCh38
NC_000004.11:g.996503C>T , CM000666.1:g.996503C>T	GRCh37
NC_000004.10:g.986503C>T	NCBI36
NG_008103.1:g.20719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-17C>T	ENSP00000247933.4:n.1190-17C>T
ENST00000514224.2:c.1190-17C>T MANE Select	ENSP00000425081.2:n.1190-17C>T
ENST00000652070.1:n.1246-17C>T
ENST00000247933.8:c.1190-17C>T	ENSP00000247933.4:n.1190-17C>T
ENST00000514224.1:c.794-17C>T	ENSP00000425081.1:n.794-17C>T
ENST00000514698.5:n.1297-17C>T
NM_000203.4:c.1190-17C>T	NP_000194.2:n.1190-17C>T
NR_110313.1:n.1278-17C>T
XM_006713882.2:c.794-17C>T	XP_006713945.1:n.794-17C>T
XM_011513459.1:c.1256-17C>T	XP_011511761.1:n.1256-17C>T
XM_011513460.1:c.1049-17C>T	XP_011511762.1:n.1049-17C>T
XM_011513461.1:c.983-17C>T	XP_011511763.1:n.983-17C>T
XM_011513462.1:c.902-17C>T	XP_011511764.1:n.902-17C>T
XM_011513463.1:c.902-17C>T	XP_011511765.1:n.902-17C>T
XR_924947.1:n.1259-17C>T
NM_000203.5:c.1190-17C>T MANE Select	NP_000194.2:n.1190-17C>T
NM_001363576.1:c.794-17C>T	NP_001350505.1:n.794-17C>T
XM_011513461.2:c.983-17C>T	XP_011511763.1:n.983-17C>T
XM_017008163.1:c.230-17C>T	XP_016863652.1:n.230-17C>T