Canonical Allele Identifier: CA10520790
Community Standard Title: NM_004484.4(GPC3):c.849A>G (p.Gln283=)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133753665T>C , CM000685.2:g.133753665T>C GRCh38
NC_000023.10:g.132887692T>C , CM000685.1:g.132887692T>C GRCh37
NC_000023.9:g.132715358T>C NCBI36
NG_009286.1:g.236975A>G , LRG_505:g.236975A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.849A>G MANE Select NP_004475.1:p.Gln283=
ENST00000370818.8:c.849A>G MANE Select ENSP00000359854.3:p.Gln283=
NM_001164617.1:c.849A>G NP_001158089.1:p.Gln283=
NM_001164617.2:c.849A>G NP_001158089.1:p.Gln283=
NM_001164618.1:c.801A>G NP_001158090.1:p.Gln267=
NM_001164618.2:c.801A>G NP_001158090.1:p.Gln267=
NM_001164619.1:c.687A>G NP_001158091.1:p.Gln229=
NM_001164619.2:c.687A>G NP_001158091.1:p.Gln229=
NM_004484.3:c.849A>G , LRG_505t1:c.849A>G NP_004475.1:p.Gln283=
ENST00000370818.7:c.849A>G ENSP00000359854.3:p.Gln283=
ENST00000394299.6:c.849A>G ENSP00000377836.2:p.Gln283=
ENST00000394299.7:c.849A>G ENSP00000377836.2:p.Gln283=
ENST00000406757.2:c.38A>G
ENST00000406757.3:c.38A>G
ENST00000631057.2:c.687A>G ENSP00000486325.1:p.Gln229=
ENST00000666673.1:n.43A>G
ENST00000684880.1:c.*437A>G ENSP00000510280.1:n.*437A>G
ENST00000689310.1:c.801A>G ENSP00000510438.1:p.Gln267=
ENST00000692084.1:c.43A>G
XM_017029413.2:c.849A>G XP_016884902.1:p.Gln283=