Canonical Allele Identifier: CA414706851

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1027051
• ClinVar RCV Id: RCV001327596
• dbSNP Id: rs2071703691
• gnomAD v4: X-133754173-G-T
• MyVariant Identifiers: chrX:g.132888200G>T (hg19) ; chrX:g.133754173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754173G>T , CM000685.2:g.133754173G>T	GRCh38
NC_000023.10:g.132888200G>T , CM000685.1:g.132888200G>T	GRCh37
NC_000023.9:g.132715866G>T	NCBI36
NG_009286.1:g.236467C>A , LRG_505:g.236467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.412C>A	ENSP00000510280.1:p.Pro138Thr
ENST00000689310.1:c.293C>A	ENSP00000510438.1:p.Ala98Asp
ENST00000692630.1:n.471C>A
ENST00000370818.8:c.341C>A MANE Select	ENSP00000359854.3:p.Ala114Asp
ENST00000394299.7:c.341C>A	ENSP00000377836.2:p.Ala114Asp
ENST00000370818.7:c.341C>A	ENSP00000359854.3:p.Ala114Asp
ENST00000394299.6:c.341C>A	ENSP00000377836.2:p.Ala114Asp
ENST00000631057.2:c.179C>A	ENSP00000486325.1:p.Ala60Asp
NM_001164617.1:c.341C>A	NP_001158089.1:p.Ala114Asp
NM_001164618.1:c.293C>A	NP_001158090.1:p.Ala98Asp
NM_001164619.1:c.179C>A	NP_001158091.1:p.Ala60Asp
NM_004484.3:c.341C>A , LRG_505t1:c.341C>A	NP_004475.1:p.Ala114Asp
XM_017029413.2:c.341C>A	XP_016884902.1:p.Ala114Asp
NM_001164617.2:c.341C>A	NP_001158089.1:p.Ala114Asp
NM_001164618.2:c.293C>A	NP_001158090.1:p.Ala98Asp
NM_001164619.2:c.179C>A	NP_001158091.1:p.Ala60Asp
NM_004484.4:c.341C>A MANE Select	NP_004475.1:p.Ala114Asp