Canonical Allele Identifier: CA10520839

Gene: GPC3

Linked Data

• ClinVar Variation Id: 572682
• ClinVar RCV Id: RCV000694123 ; RCV004025183
• dbSNP Id: rs754433681
• ExAC: X:132888178 A / T
• gnomAD v2: X-132888178-A-T
• gnomAD v3: X-133754151-A-T
• gnomAD v4: X-133754151-A-T
• MyVariant Identifiers: chrX:g.132888178A>T (hg19) ; chrX:g.133754151A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754151A>T , CM000685.2:g.133754151A>T	GRCh38
NC_000023.10:g.132888178A>T , CM000685.1:g.132888178A>T	GRCh37
NC_000023.9:g.132715844A>T	NCBI36
NG_009286.1:g.236489T>A , LRG_505:g.236489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.434T>A	ENSP00000510280.1:p.Met145Lys
ENST00000689310.1:c.315T>A	ENSP00000510438.1:p.His105Gln
ENST00000692630.1:n.493T>A
ENST00000370818.8:c.363T>A MANE Select	ENSP00000359854.3:p.His121Gln
ENST00000394299.7:c.363T>A	ENSP00000377836.2:p.His121Gln
ENST00000370818.7:c.363T>A	ENSP00000359854.3:p.His121Gln
ENST00000394299.6:c.363T>A	ENSP00000377836.2:p.His121Gln
ENST00000631057.2:c.201T>A	ENSP00000486325.1:p.His67Gln
NM_001164617.1:c.363T>A	NP_001158089.1:p.His121Gln
NM_001164618.1:c.315T>A	NP_001158090.1:p.His105Gln
NM_001164619.1:c.201T>A	NP_001158091.1:p.His67Gln
NM_004484.3:c.363T>A , LRG_505t1:c.363T>A	NP_004475.1:p.His121Gln
XM_017029413.2:c.363T>A	XP_016884902.1:p.His121Gln
NM_001164617.2:c.363T>A	NP_001158089.1:p.His121Gln
NM_001164618.2:c.315T>A	NP_001158090.1:p.His105Gln
NM_001164619.2:c.201T>A	NP_001158091.1:p.His67Gln
NM_004484.4:c.363T>A MANE Select	NP_004475.1:p.His121Gln