Canonical Allele Identifier: CA438057554

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1129293
• ClinVar RCV Id: RCV001462390
• dbSNP Id: rs1463496008
• gnomAD v2: 4-995925-G-T
• gnomAD v4: 4-1002137-G-T
• MyVariant Identifiers: chr4:g.995925G>T (hg19) ; chr4:g.1002137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002137G>T , CM000666.2:g.1002137G>T	GRCh38
NC_000004.11:g.995925G>T , CM000666.1:g.995925G>T	GRCh37
NC_000004.10:g.985925G>T	NCBI36
NG_008103.1:g.20141G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.948G>T	ENSP00000247933.4:p.Val316=
ENST00000514224.2:c.948G>T MANE Select	ENSP00000425081.2:p.Val316=
ENST00000652070.1:n.1004G>T
ENST00000247933.8:c.948G>T	ENSP00000247933.4:p.Val316=
ENST00000514224.1:c.552G>T	ENSP00000425081.1:p.Val184=
ENST00000514698.5:n.948G>T
NM_000203.4:c.948G>T	NP_000194.2:p.Val316=
NR_110313.1:n.1036G>T
XM_006713882.2:c.552G>T	XP_006713945.1:p.Val184=
XM_011513459.1:c.907G>T	XP_011511761.1:p.Asp303Tyr
XM_011513460.1:c.807G>T	XP_011511762.1:p.Val269=
XM_011513461.1:c.741G>T	XP_011511763.1:p.Val247=
XM_011513462.1:c.660G>T	XP_011511764.1:p.Val220=
XM_011513463.1:c.660G>T	XP_011511765.1:p.Val220=
XR_924947.1:n.1017G>T
NM_000203.5:c.948G>T MANE Select	NP_000194.2:p.Val316=
NM_001363576.1:c.552G>T	NP_001350505.1:p.Val184=
XM_011513461.2:c.741G>T	XP_011511763.1:p.Val247=
XM_017008163.1:c.-13G>T	XP_016863652.1:n.-13G>T