Canonical Allele Identifier: CA438057636

Gene: IDUA

Linked Data

• dbSNP Id: rs1398265814
• gnomAD v2: 4-996545-G-C
• MyVariant Identifiers: chr4:g.996545G>C (hg19) ; chr4:g.1002757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002757G>C , CM000666.2:g.1002757G>C	GRCh38
NC_000004.11:g.996545G>C , CM000666.1:g.996545G>C	GRCh37
NC_000004.10:g.986545G>C	NCBI36
NG_008103.1:g.20761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1215G>C	ENSP00000247933.4:p.Val405=
ENST00000514224.2:c.1215G>C MANE Select	ENSP00000425081.2:p.Val405=
ENST00000652070.1:n.1271G>C
ENST00000247933.8:c.1215G>C	ENSP00000247933.4:p.Val405=
ENST00000502829.1:n.17G>C
ENST00000514224.1:c.819G>C	ENSP00000425081.1:p.Val273=
ENST00000514698.5:n.1322G>C
NM_000203.4:c.1215G>C	NP_000194.2:p.Val405=
NR_110313.1:n.1303G>C
XM_006713882.2:c.819G>C	XP_006713945.1:p.Val273=
XM_011513459.1:c.1281G>C	XP_011511761.1:p.Val427=
XM_011513460.1:c.1074G>C	XP_011511762.1:p.Val358=
XM_011513461.1:c.1008G>C	XP_011511763.1:p.Val336=
XM_011513462.1:c.927G>C	XP_011511764.1:p.Val309=
XM_011513463.1:c.927G>C	XP_011511765.1:p.Val309=
XR_924947.1:n.1284G>C
NM_000203.5:c.1215G>C MANE Select	NP_000194.2:p.Val405=
NM_001363576.1:c.819G>C	NP_001350505.1:p.Val273=
XM_011513461.2:c.1008G>C	XP_011511763.1:p.Val336=
XM_017008163.1:c.255G>C	XP_016863652.1:p.Val85=