Canonical Allele Identifier: CA10520781

Gene: GPC3

Linked Data

• dbSNP Id: rs771740118
• ExAC: X:132887636 G / T
• gnomAD v2: X-132887636-G-T
• MyVariant Identifiers: chrX:g.132887636G>T (hg19) ; chrX:g.133753609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753609G>T , CM000685.2:g.133753609G>T	GRCh38
NC_000023.10:g.132887636G>T , CM000685.1:g.132887636G>T	GRCh37
NC_000023.9:g.132715302G>T	NCBI36
NG_009286.1:g.237031C>A , LRG_505:g.237031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.94C>A
ENST00000684880.1:c.*493C>A	ENSP00000510280.1:n.*493C>A
ENST00000689310.1:c.857C>A	ENSP00000510438.1:p.Ser286Tyr
ENST00000692084.1:c.99C>A
ENST00000370818.8:c.905C>A MANE Select	ENSP00000359854.3:p.Ser302Tyr
ENST00000394299.7:c.905C>A	ENSP00000377836.2:p.Ser302Tyr
ENST00000666673.1:n.99C>A
ENST00000370818.7:c.905C>A	ENSP00000359854.3:p.Ser302Tyr
ENST00000394299.6:c.905C>A	ENSP00000377836.2:p.Ser302Tyr
ENST00000406757.2:c.94C>A
ENST00000631057.2:c.743C>A	ENSP00000486325.1:p.Ser248Tyr
NM_001164617.1:c.905C>A	NP_001158089.1:p.Ser302Tyr
NM_001164618.1:c.857C>A	NP_001158090.1:p.Ser286Tyr
NM_001164619.1:c.743C>A	NP_001158091.1:p.Ser248Tyr
NM_004484.3:c.905C>A , LRG_505t1:c.905C>A	NP_004475.1:p.Ser302Tyr
XM_017029413.2:c.905C>A	XP_016884902.1:p.Ser302Tyr
NM_001164617.2:c.905C>A	NP_001158089.1:p.Ser302Tyr
NM_001164618.2:c.857C>A	NP_001158090.1:p.Ser286Tyr
NM_001164619.2:c.743C>A	NP_001158091.1:p.Ser248Tyr
NM_004484.4:c.905C>A MANE Select	NP_004475.1:p.Ser302Tyr