Canonical Allele Identifier: CA414700070
Community Standard Title: NM_004484.4(GPC3):c.1064G>A (p.Arg355His)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133699997C>T , CM000685.2:g.133699997C>T GRCh38
NC_000023.10:g.132834025C>T , CM000685.1:g.132834025C>T GRCh37
NC_000023.9:g.132661691C>T NCBI36
NG_009286.1:g.290642G>A , LRG_505:g.290642G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.1064G>A MANE Select NP_004475.1:p.Arg355His
ENST00000370818.8:c.1064G>A MANE Select ENSP00000359854.3:p.Arg355His
NM_001164617.1:c.1133G>A NP_001158089.1:p.Arg378His
NM_001164617.2:c.1133G>A NP_001158089.1:p.Arg378His
NM_001164618.1:c.1016G>A NP_001158090.1:p.Arg339His
NM_001164618.2:c.1016G>A NP_001158090.1:p.Arg339His
NM_001164619.1:c.902G>A NP_001158091.1:p.Arg301His
NM_001164619.2:c.902G>A NP_001158091.1:p.Arg301His
NM_004484.3:c.1064G>A , LRG_505t1:c.1064G>A NP_004475.1:p.Arg355His
ENST00000370818.7:c.1064G>A ENSP00000359854.3:p.Arg355His
ENST00000394299.6:c.1133G>A ENSP00000377836.2:p.Arg378His
ENST00000394299.7:c.1133G>A ENSP00000377836.2:p.Arg378His
ENST00000406757.2:c.253G>A
ENST00000406757.3:c.253G>A
ENST00000631057.2:c.902G>A ENSP00000486325.1:p.Arg301His
ENST00000666673.1:n.351G>A
ENST00000666673.2:n.95G>A
ENST00000667662.1:n.131G>A
ENST00000669691.1:n.110G>A
ENST00000684880.1:c.*652G>A ENSP00000510280.1:n.*652G>A
ENST00000689310.1:c.1016G>A ENSP00000510438.1:p.Arg339His
ENST00000692084.1:c.351G>A
XM_017029413.2:c.1064G>A XP_016884902.1:p.Arg355His