Canonical Allele Identifier: CA355962231

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995647A>C (hg19) ; chr4:g.1001859A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001859A>C , CM000666.2:g.1001859A>C	GRCh38
NC_000004.11:g.995647A>C , CM000666.1:g.995647A>C	GRCh37
NC_000004.10:g.985647A>C	NCBI36
NG_008103.1:g.19863A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.770A>C	ENSP00000247933.4:p.Asp257Ala
ENST00000514224.2:c.770A>C MANE Select	ENSP00000425081.2:p.Asp257Ala
ENST00000652070.1:n.826A>C
ENST00000247933.8:c.770A>C	ENSP00000247933.4:p.Asp257Ala
ENST00000502910.5:c.629A>C	ENSP00000422952.1:p.Asp210Ala
ENST00000514192.5:c.587A>C	ENSP00000423685.1:p.Asp196Ala
ENST00000514224.1:c.374A>C	ENSP00000425081.1:p.Asp125Ala
ENST00000514698.5:n.670A>C
NM_000203.4:c.770A>C	NP_000194.2:p.Asp257Ala
NR_110313.1:n.858A>C
XM_006713882.2:c.374A>C	XP_006713945.1:p.Asp125Ala
XM_011513459.1:c.629A>C	XP_011511761.1:p.Asp210Ala
XM_011513460.1:c.629A>C	XP_011511762.1:p.Asp210Ala
XM_011513461.1:c.563A>C	XP_011511763.1:p.Asp188Ala
XM_011513462.1:c.482A>C	XP_011511764.1:p.Asp161Ala
XM_011513463.1:c.482A>C	XP_011511765.1:p.Asp161Ala
XR_924947.1:n.839A>C
NM_000203.5:c.770A>C MANE Select	NP_000194.2:p.Asp257Ala
NM_001363576.1:c.374A>C	NP_001350505.1:p.Asp125Ala
XM_011513461.2:c.563A>C	XP_011511763.1:p.Asp188Ala
XM_017008163.1:c.-191A>C	XP_016863652.1:n.-191A>C