Canonical Allele Identifier: CA355962958

Gene: IDUA

Linked Data

• dbSNP Id: rs768189258
• MyVariant Identifiers: chr4:g.996070A>T (hg19) ; chr4:g.1002282A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.986A>T	ENSP00000247933.4:p.His329Leu
ENST00000514224.2:c.986A>T MANE Select	ENSP00000425081.2:p.His329Leu
ENST00000652070.1:n.1042A>T
ENST00000247933.8:c.986A>T	ENSP00000247933.4:p.His329Leu
ENST00000514224.1:c.590A>T	ENSP00000425081.1:p.His197Leu
ENST00000514698.5:n.1093A>T
NM_000203.4:c.986A>T	NP_000194.2:p.His329Leu
NR_110313.1:n.1074A>T
XM_006713882.2:c.590A>T	XP_006713945.1:p.His197Leu
XM_011513459.1:c.1052A>T	XP_011511761.1:p.His351Leu
XM_011513460.1:c.845A>T	XP_011511762.1:p.His282Leu
XM_011513461.1:c.779A>T	XP_011511763.1:p.His260Leu
XM_011513462.1:c.698A>T	XP_011511764.1:p.His233Leu
XM_011513463.1:c.698A>T	XP_011511765.1:p.His233Leu
XR_924947.1:n.1055A>T
NM_000203.5:c.986A>T MANE Select	NP_000194.2:p.His329Leu
NM_001363576.1:c.590A>T	NP_001350505.1:p.His197Leu
XM_011513461.2:c.779A>T	XP_011511763.1:p.His260Leu
XM_017008163.1:c.26A>T	XP_016863652.1:p.His9Leu