Canonical Allele Identifier: CA10520804

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1556235
• ClinVar RCV Id: RCV002187760
• dbSNP Id: rs776010902
• ExAC: X:132887806 G / A
• gnomAD v2: X-132887806-G-A
• gnomAD v4: X-133753779-G-A
• MyVariant Identifiers: chrX:g.132887806G>A (hg19) ; chrX:g.133753779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753779G>A , CM000685.2:g.133753779G>A	GRCh38
NC_000023.10:g.132887806G>A , CM000685.1:g.132887806G>A	GRCh37
NC_000023.9:g.132715472G>A	NCBI36
NG_009286.1:g.236861C>T , LRG_505:g.236861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*323C>T	ENSP00000510280.1:n.*323C>T
ENST00000689310.1:c.687C>T	ENSP00000510438.1:p.His229=
ENST00000370818.8:c.735C>T MANE Select	ENSP00000359854.3:p.His245=
ENST00000394299.7:c.735C>T	ENSP00000377836.2:p.His245=
ENST00000370818.7:c.735C>T	ENSP00000359854.3:p.His245=
ENST00000394299.6:c.735C>T	ENSP00000377836.2:p.His245=
ENST00000631057.2:c.573C>T	ENSP00000486325.1:p.His191=
NM_001164617.1:c.735C>T	NP_001158089.1:p.His245=
NM_001164618.1:c.687C>T	NP_001158090.1:p.His229=
NM_001164619.1:c.573C>T	NP_001158091.1:p.His191=
NM_004484.3:c.735C>T , LRG_505t1:c.735C>T	NP_004475.1:p.His245=
XM_017029413.2:c.735C>T	XP_016884902.1:p.His245=
NM_001164617.2:c.735C>T	NP_001158089.1:p.His245=
NM_001164618.2:c.687C>T	NP_001158090.1:p.His229=
NM_001164619.2:c.573C>T	NP_001158091.1:p.His191=
NM_004484.4:c.735C>T MANE Select	NP_004475.1:p.His245=