Canonical Allele Identifier: CA438057404

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995772T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001984T>C , CM000666.2:g.1001984T>C	GRCh38
NC_000004.11:g.995772T>C , CM000666.1:g.995772T>C	GRCh37
NC_000004.10:g.985772T>C	NCBI36
NG_008103.1:g.19988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.795T>C	ENSP00000247933.4:p.Gly265=
ENST00000514224.2:c.795T>C MANE Select	ENSP00000425081.2:p.Gly265=
ENST00000652070.1:n.851T>C
ENST00000247933.8:c.795T>C	ENSP00000247933.4:p.Gly265=
ENST00000502910.5:c.654T>C	ENSP00000422952.1:p.Gly218=
ENST00000514192.5:c.612T>C	ENSP00000423685.1:p.Gly204=
ENST00000514224.1:c.399T>C	ENSP00000425081.1:p.Gly133=
ENST00000514698.5:n.795T>C
NM_000203.4:c.795T>C	NP_000194.2:p.Gly265=
NR_110313.1:n.883T>C
XM_006713882.2:c.399T>C	XP_006713945.1:p.Gly133=
XM_011513459.1:c.754T>C	XP_011511761.1:p.Cys252Arg
XM_011513460.1:c.654T>C	XP_011511762.1:p.Gly218=
XM_011513461.1:c.588T>C	XP_011511763.1:p.Gly196=
XM_011513462.1:c.507T>C	XP_011511764.1:p.Gly169=
XM_011513463.1:c.507T>C	XP_011511765.1:p.Gly169=
XR_924947.1:n.864T>C
NM_000203.5:c.795T>C MANE Select	NP_000194.2:p.Gly265=
NM_001363576.1:c.399T>C	NP_001350505.1:p.Gly133=
XM_011513461.2:c.588T>C	XP_011511763.1:p.Gly196=
XM_017008163.1:c.-166T>C	XP_016863652.1:n.-166T>C