Canonical Allele Identifier: CA438057960

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997222G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003434G>C , CM000666.2:g.1003434G>C	GRCh38
NC_000004.11:g.997222G>C , CM000666.1:g.997222G>C	GRCh37
NC_000004.10:g.987222G>C	NCBI36
NG_008103.1:g.21438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1614G>C	ENSP00000247933.4:p.Val538=
ENST00000514224.2:c.1614G>C MANE Select	ENSP00000425081.2:p.Val538=
ENST00000652070.1:n.1670G>C
ENST00000247933.8:c.1614G>C	ENSP00000247933.4:p.Val538=
ENST00000514224.1:c.1218G>C	ENSP00000425081.1:p.Val406=
ENST00000514417.1:n.6G>C
ENST00000514698.5:n.1721G>C
NM_000203.4:c.1614G>C	NP_000194.2:p.Val538=
NR_110313.1:n.1702G>C
XM_006713882.2:c.1218G>C	XP_006713945.1:p.Val406=
XM_011513459.1:c.1680G>C	XP_011511761.1:p.Val560=
XM_011513460.1:c.1473G>C	XP_011511762.1:p.Val491=
XM_011513461.1:c.1407G>C	XP_011511763.1:p.Val469=
XM_011513462.1:c.1326G>C	XP_011511764.1:p.Val442=
XM_011513463.1:c.1326G>C	XP_011511765.1:p.Val442=
XR_924947.1:n.1870G>C
NM_000203.5:c.1614G>C MANE Select	NP_000194.2:p.Val538=
NM_001363576.1:c.1218G>C	NP_001350505.1:p.Val406=
XM_011513461.2:c.1407G>C	XP_011511763.1:p.Val469=
XM_017008163.1:c.654G>C	XP_016863652.1:p.Val218=