Canonical Allele Identifier: CA2802051
Community Standard Title: NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001759T>C , CM000666.2:g.1001759T>C GRCh38
NC_000004.11:g.995547T>C , CM000666.1:g.995547T>C GRCh37
NC_000004.10:g.985547T>C NCBI36
NG_008103.1:g.19763T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.670T>C MANE Select NP_000194.2:p.Ser224Pro
ENST00000514224.2:c.670T>C MANE Select ENSP00000425081.2:p.Ser224Pro
NM_000203.4:c.670T>C NP_000194.2:p.Ser224Pro
NM_001363576.1:c.274T>C NP_001350505.1:p.Ser92Pro
NR_110313.1:n.758T>C
ENST00000247933.8:c.670T>C ENSP00000247933.4:p.Ser224Pro
ENST00000247933.9:c.670T>C ENSP00000247933.4:p.Ser224Pro
ENST00000502910.5:c.529T>C ENSP00000422952.1:p.Ser177Pro
ENST00000509948.5:c.463T>C ENSP00000424227.1:p.Ser155Pro
ENST00000514192.5:c.487T>C ENSP00000423685.1:p.Ser163Pro
ENST00000514224.1:c.274T>C ENSP00000425081.1:p.Ser92Pro
ENST00000514698.5:n.570T>C
ENST00000652070.1:n.726T>C
XM_006713882.2:c.274T>C XP_006713945.1:p.Ser92Pro
XM_011513459.1:c.529T>C XP_011511761.1:p.Ser177Pro
XM_011513460.1:c.529T>C XP_011511762.1:p.Ser177Pro
XM_011513461.1:c.463T>C XP_011511763.1:p.Ser155Pro
XM_011513461.2:c.463T>C XP_011511763.1:p.Ser155Pro
XM_011513462.1:c.382T>C XP_011511764.1:p.Ser128Pro
XM_011513463.1:c.382T>C XP_011511765.1:p.Ser128Pro
XM_017008163.1:c.-291T>C XP_016863652.1:n.-291T>C
XR_924947.1:n.739T>C