Canonical Allele Identifier: CA355962757

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995923G>C (hg19) ; chr4:g.1002135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002135G>C , CM000666.2:g.1002135G>C	GRCh38
NC_000004.11:g.995923G>C , CM000666.1:g.995923G>C	GRCh37
NC_000004.10:g.985923G>C	NCBI36
NG_008103.1:g.20139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.946G>C	ENSP00000247933.4:p.Val316Leu
ENST00000514224.2:c.946G>C MANE Select	ENSP00000425081.2:p.Val316Leu
ENST00000652070.1:n.1002G>C
ENST00000247933.8:c.946G>C	ENSP00000247933.4:p.Val316Leu
ENST00000514224.1:c.550G>C	ENSP00000425081.1:p.Val184Leu
ENST00000514698.5:n.946G>C
NM_000203.4:c.946G>C	NP_000194.2:p.Val316Leu
NR_110313.1:n.1034G>C
XM_006713882.2:c.550G>C	XP_006713945.1:p.Val184Leu
XM_011513459.1:c.905G>C	XP_011511761.1:p.Arg302Pro
XM_011513460.1:c.805G>C	XP_011511762.1:p.Val269Leu
XM_011513461.1:c.739G>C	XP_011511763.1:p.Val247Leu
XM_011513462.1:c.658G>C	XP_011511764.1:p.Val220Leu
XM_011513463.1:c.658G>C	XP_011511765.1:p.Val220Leu
XR_924947.1:n.1015G>C
NM_000203.5:c.946G>C MANE Select	NP_000194.2:p.Val316Leu
NM_001363576.1:c.550G>C	NP_001350505.1:p.Val184Leu
XM_011513461.2:c.739G>C	XP_011511763.1:p.Val247Leu
XM_017008163.1:c.-15G>C	XP_016863652.1:n.-15G>C