Canonical Allele Identifier: CA355962956

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996070A>C (hg19) ; chr4:g.1002282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002282A>C , CM000666.2:g.1002282A>C	GRCh38
NC_000004.11:g.996070A>C , CM000666.1:g.996070A>C	GRCh37
NC_000004.10:g.986070A>C	NCBI36
NG_008103.1:g.20286A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.986A>C	ENSP00000247933.4:p.His329Pro
ENST00000514224.2:c.986A>C MANE Select	ENSP00000425081.2:p.His329Pro
ENST00000652070.1:n.1042A>C
ENST00000247933.8:c.986A>C	ENSP00000247933.4:p.His329Pro
ENST00000514224.1:c.590A>C	ENSP00000425081.1:p.His197Pro
ENST00000514698.5:n.1093A>C
NM_000203.4:c.986A>C	NP_000194.2:p.His329Pro
NR_110313.1:n.1074A>C
XM_006713882.2:c.590A>C	XP_006713945.1:p.His197Pro
XM_011513459.1:c.1052A>C	XP_011511761.1:p.His351Pro
XM_011513460.1:c.845A>C	XP_011511762.1:p.His282Pro
XM_011513461.1:c.779A>C	XP_011511763.1:p.His260Pro
XM_011513462.1:c.698A>C	XP_011511764.1:p.His233Pro
XM_011513463.1:c.698A>C	XP_011511765.1:p.His233Pro
XR_924947.1:n.1055A>C
NM_000203.5:c.986A>C MANE Select	NP_000194.2:p.His329Pro
NM_001363576.1:c.590A>C	NP_001350505.1:p.His197Pro
XM_011513461.2:c.779A>C	XP_011511763.1:p.His260Pro
XM_017008163.1:c.26A>C	XP_016863652.1:p.His9Pro