Canonical Allele Identifier: CA438057571

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995943G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002155G>C , CM000666.2:g.1002155G>C	GRCh38
NC_000004.11:g.995943G>C , CM000666.1:g.995943G>C	GRCh37
NC_000004.10:g.985943G>C	NCBI36
NG_008103.1:g.20159G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.966G>C	ENSP00000247933.4:p.Val322=
ENST00000514224.2:c.966G>C MANE Select	ENSP00000425081.2:p.Val322=
ENST00000652070.1:n.1022G>C
ENST00000247933.8:c.966G>C	ENSP00000247933.4:p.Val322=
ENST00000514224.1:c.570G>C	ENSP00000425081.1:p.Val190=
ENST00000514698.5:n.966G>C
NM_000203.4:c.966G>C	NP_000194.2:p.Val322=
NR_110313.1:n.1054G>C
XM_006713882.2:c.570G>C	XP_006713945.1:p.Val190=
XM_011513459.1:c.925G>C	XP_011511761.1:p.Gly309Arg
XM_011513460.1:c.825G>C	XP_011511762.1:p.Val275=
XM_011513461.1:c.759G>C	XP_011511763.1:p.Val253=
XM_011513462.1:c.678G>C	XP_011511764.1:p.Val226=
XM_011513463.1:c.678G>C	XP_011511765.1:p.Val226=
XR_924947.1:n.1035G>C
NM_000203.5:c.966G>C MANE Select	NP_000194.2:p.Val322=
NM_001363576.1:c.570G>C	NP_001350505.1:p.Val190=
XM_011513461.2:c.759G>C	XP_011511763.1:p.Val253=
XM_017008163.1:c.6G>C	XP_016863652.1:p.Val2=