Canonical Allele Identifier: CA355962241

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001863C>A , CM000666.2:g.1001863C>A	GRCh38
NC_000004.11:g.995651C>A , CM000666.1:g.995651C>A	GRCh37
NC_000004.10:g.985651C>A	NCBI36
NG_008103.1:g.19867C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.774C>A MANE Select	NP_000194.2:p.Tyr258Ter
ENST00000514224.2:c.774C>A MANE Select	ENSP00000425081.2:p.Tyr258Ter
NM_000203.4:c.774C>A	NP_000194.2:p.Tyr258Ter
NM_001363576.1:c.378C>A	NP_001350505.1:p.Tyr126Ter
NR_110313.1:n.862C>A
ENST00000247933.8:c.774C>A	ENSP00000247933.4:p.Tyr258Ter
ENST00000247933.9:c.774C>A	ENSP00000247933.4:p.Tyr258Ter
ENST00000502910.5:c.633C>A	ENSP00000422952.1:p.Tyr211Ter
ENST00000514192.5:c.591C>A	ENSP00000423685.1:p.Tyr197Ter
ENST00000514224.1:c.378C>A	ENSP00000425081.1:p.Tyr126Ter
ENST00000514698.5:n.674C>A
ENST00000652070.1:n.830C>A
XM_006713882.2:c.378C>A	XP_006713945.1:p.Tyr126Ter
XM_011513459.1:c.633C>A	XP_011511761.1:p.Tyr211Ter
XM_011513460.1:c.633C>A	XP_011511762.1:p.Tyr211Ter
XM_011513461.1:c.567C>A	XP_011511763.1:p.Tyr189Ter
XM_011513461.2:c.567C>A	XP_011511763.1:p.Tyr189Ter
XM_011513462.1:c.486C>A	XP_011511764.1:p.Tyr162Ter
XM_011513463.1:c.486C>A	XP_011511765.1:p.Tyr162Ter
XM_017008163.1:c.-187C>A	XP_016863652.1:n.-187C>A
XR_924947.1:n.843C>A