Canonical Allele Identifier: CA414705840

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1411462
• ClinVar RCV Id: RCV001920655
• dbSNP Id: rs1447010765
• gnomAD v3: X-133753727-A-T
• gnomAD v4: X-133753727-A-T
• MyVariant Identifiers: chrX:g.132887754A>T (hg19) ; chrX:g.133753727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753727A>T , CM000685.2:g.133753727A>T	GRCh38
NC_000023.10:g.132887754A>T , CM000685.1:g.132887754A>T	GRCh37
NC_000023.9:g.132715420A>T	NCBI36
NG_009286.1:g.236913T>A , LRG_505:g.236913T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.*375T>A	ENSP00000510280.1:n.*375T>A
ENST00000689310.1:c.739T>A	ENSP00000510438.1:p.Ser247Thr
ENST00000370818.8:c.787T>A MANE Select	ENSP00000359854.3:p.Ser263Thr
ENST00000394299.7:c.787T>A	ENSP00000377836.2:p.Ser263Thr
ENST00000370818.7:c.787T>A	ENSP00000359854.3:p.Ser263Thr
ENST00000394299.6:c.787T>A	ENSP00000377836.2:p.Ser263Thr
ENST00000631057.2:c.625T>A	ENSP00000486325.1:p.Ser209Thr
NM_001164617.1:c.787T>A	NP_001158089.1:p.Ser263Thr
NM_001164618.1:c.739T>A	NP_001158090.1:p.Ser247Thr
NM_001164619.1:c.625T>A	NP_001158091.1:p.Ser209Thr
NM_004484.3:c.787T>A , LRG_505t1:c.787T>A	NP_004475.1:p.Ser263Thr
XM_017029413.2:c.787T>A	XP_016884902.1:p.Ser263Thr
NM_001164617.2:c.787T>A	NP_001158089.1:p.Ser263Thr
NM_001164618.2:c.739T>A	NP_001158090.1:p.Ser247Thr
NM_001164619.2:c.625T>A	NP_001158091.1:p.Ser209Thr
NM_004484.4:c.787T>A MANE Select	NP_004475.1:p.Ser263Thr