Canonical Allele Identifier: CA355961800

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995333G>T (hg19) ; chr4:g.1001545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001545G>T , CM000666.2:g.1001545G>T	GRCh38
NC_000004.11:g.995333G>T , CM000666.1:g.995333G>T	GRCh37
NC_000004.10:g.985333G>T	NCBI36
NG_008103.1:g.19549G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.571G>T	ENSP00000247933.4:p.Val191Phe
ENST00000514224.2:c.571G>T MANE Select	ENSP00000425081.2:p.Val191Phe
ENST00000652070.1:n.627G>T
ENST00000247933.8:c.571G>T	ENSP00000247933.4:p.Val191Phe
ENST00000502910.5:c.430G>T	ENSP00000422952.1:p.Val144Phe
ENST00000504568.5:c.531G>T
ENST00000509948.5:c.364G>T	ENSP00000424227.1:p.Val122Phe
ENST00000514192.5:c.388G>T	ENSP00000423685.1:p.Val130Phe
ENST00000514224.1:c.175G>T	ENSP00000425081.1:p.Val59Phe
ENST00000514698.5:n.471G>T
NM_000203.4:c.571G>T	NP_000194.2:p.Val191Phe
NR_110313.1:n.659G>T
XM_006713882.2:c.175G>T	XP_006713945.1:p.Val59Phe
XM_011513459.1:c.430G>T	XP_011511761.1:p.Val144Phe
XM_011513460.1:c.430G>T	XP_011511762.1:p.Val144Phe
XM_011513461.1:c.364G>T	XP_011511763.1:p.Val122Phe
XM_011513462.1:c.283G>T	XP_011511764.1:p.Val95Phe
XM_011513463.1:c.283G>T	XP_011511765.1:p.Val95Phe
XR_924947.1:n.640G>T
NM_000203.5:c.571G>T MANE Select	NP_000194.2:p.Val191Phe
NM_001363576.1:c.175G>T	NP_001350505.1:p.Val59Phe
XM_011513461.2:c.364G>T	XP_011511763.1:p.Val122Phe
XM_017008163.1:c.-418G>T	XP_016863652.1:n.-418G>T