Canonical Allele Identifier: CA438058068

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997396T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003608T>C , CM000666.2:g.1003608T>C	GRCh38
NC_000004.11:g.997396T>C , CM000666.1:g.997396T>C	GRCh37
NC_000004.10:g.987396T>C	NCBI36
NG_008103.1:g.21612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1710T>C	ENSP00000247933.4:p.Asp570=
ENST00000514224.2:c.1710T>C MANE Select	ENSP00000425081.2:p.Asp570=
ENST00000652070.1:n.1766T>C
ENST00000247933.8:c.1710T>C	ENSP00000247933.4:p.Asp570=
ENST00000514224.1:c.1314T>C	ENSP00000425081.1:p.Asp438=
ENST00000514417.1:n.102T>C
ENST00000514698.5:n.1817T>C
NM_000203.4:c.1710T>C	NP_000194.2:p.Asp570=
NR_110313.1:n.1798T>C
XM_006713882.2:c.1314T>C	XP_006713945.1:p.Asp438=
XM_011513459.1:c.1776T>C	XP_011511761.1:p.Asp592=
XM_011513460.1:c.1569T>C	XP_011511762.1:p.Asp523=
XM_011513461.1:c.1503T>C	XP_011511763.1:p.Asp501=
XM_011513462.1:c.1422T>C	XP_011511764.1:p.Asp474=
XM_011513463.1:c.1422T>C	XP_011511765.1:p.Asp474=
XR_924947.1:n.1966T>C
NM_000203.5:c.1710T>C MANE Select	NP_000194.2:p.Asp570=
NM_001363576.1:c.1314T>C	NP_001350505.1:p.Asp438=
XM_011513461.2:c.1503T>C	XP_011511763.1:p.Asp501=
XM_017008163.1:c.750T>C	XP_016863652.1:p.Asp250=