Canonical Allele Identifier: CA355965961

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004305A>C , CM000666.2:g.1004305A>C	GRCh38
NC_000004.11:g.998093A>C , CM000666.1:g.998093A>C	GRCh37
NC_000004.10:g.988093A>C	NCBI36
NG_008103.1:g.22309A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1874A>C MANE Select	NP_000194.2:p.Tyr625Ser
ENST00000514224.2:c.1874A>C MANE Select	ENSP00000425081.2:p.Tyr625Ser
NM_000203.4:c.1874A>C	NP_000194.2:p.Tyr625Ser
NM_001363576.1:c.1478A>C	NP_001350505.1:p.Tyr493Ser
NR_110313.1:n.1966A>C
ENST00000247933.8:c.1874A>C	ENSP00000247933.4:p.Tyr625Ser
ENST00000247933.9:c.1874A>C	ENSP00000247933.4:p.Tyr625Ser
ENST00000514224.1:c.1478A>C	ENSP00000425081.1:p.Tyr493Ser
ENST00000514698.5:n.1985A>C
ENST00000652070.1:n.1930A>C
XM_006713882.2:c.1478A>C	XP_006713945.1:p.Tyr493Ser
XM_011513459.1:c.1940A>C	XP_011511761.1:p.Tyr647Ser
XM_011513460.1:c.1733A>C	XP_011511762.1:p.Tyr578Ser
XM_011513461.1:c.1667A>C	XP_011511763.1:p.Tyr556Ser
XM_011513461.2:c.1667A>C	XP_011511763.1:p.Tyr556Ser
XM_011513462.1:c.1586A>C	XP_011511764.1:p.Tyr529Ser
XM_011513463.1:c.1586A>C	XP_011511765.1:p.Tyr529Ser
XM_017008163.1:c.914A>C	XP_016863652.1:p.Tyr305Ser
XR_924947.1:n.2134A>C