Canonical Allele Identifier: CA414706874

Gene: GPC3

Linked Data

• gnomAD v4: X-133985277-G-T
• MyVariant Identifiers: chrX:g.133119304G>T (hg19) ; chrX:g.133985277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133985277G>T , CM000685.2:g.133985277G>T	GRCh38
NC_000023.10:g.133119304G>T , CM000685.1:g.133119304G>T	GRCh37
NC_000023.9:g.132946970G>T	NCBI36
NG_009286.1:g.5363C>A , LRG_505:g.5363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.173C>A	ENSP00000510280.1:p.Pro58Gln
ENST00000689310.1:c.173C>A	ENSP00000510438.1:p.Pro58Gln
ENST00000692630.1:n.303C>A
ENST00000370818.8:c.173C>A MANE Select	ENSP00000359854.3:p.Pro58Gln
ENST00000394299.7:c.173C>A	ENSP00000377836.2:p.Pro58Gln
ENST00000370818.7:c.173C>A	ENSP00000359854.3:p.Pro58Gln
ENST00000394299.6:c.173C>A	ENSP00000377836.2:p.Pro58Gln
ENST00000631057.2:c.173C>A	ENSP00000486325.1:p.Pro58Gln
NM_001164617.1:c.173C>A	NP_001158089.1:p.Pro58Gln
NM_001164618.1:c.173C>A	NP_001158090.1:p.Pro58Gln
NM_001164619.1:c.173C>A	NP_001158091.1:p.Pro58Gln
NM_004484.3:c.173C>A , LRG_505t1:c.173C>A	NP_004475.1:p.Pro58Gln
XM_017029413.2:c.173C>A	XP_016884902.1:p.Pro58Gln
NM_001164617.2:c.173C>A	NP_001158089.1:p.Pro58Gln
NM_001164618.2:c.173C>A	NP_001158090.1:p.Pro58Gln
NM_001164619.2:c.173C>A	NP_001158091.1:p.Pro58Gln
NM_004484.4:c.173C>A MANE Select	NP_004475.1:p.Pro58Gln