Canonical Allele Identifier: CA7317958
Gene: GOLGA5 HGNC NCBI
COSMIC:
COSM3754177
dbSNP:
1040835
gnomAD v2:
14:93276654 T / C
gnomAD v3:
14:92810309 T / C
gnomAD v4:
chr14-92810309-T-C
Joint Max Group AF 0.93524868 (AFR)
Genomes Max Group AF 0.92969169 (AFR)
Exomes Max Group AF 0.93681089 (AFR)
MyVariant.info:
GRCh38 chr14:g.92810309T>C
GRCh37 chr14:g.93276654T>C
Revel Score:
ENST00000163416 (MANE Select) 0.058
ENST00000355976 0.058
ENST00000439315 0.058
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92810309T>C , CM000676.2:g.92810309T>C GRCh38
NC_000014.8:g.93276654T>C , CM000676.1:g.93276654T>C GRCh37
NC_000014.7:g.92346407T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000163416.7:c.1048T>C MANE Select ENSP00000163416.2:p.Phe350Leu
ENST00000163416.6:c.1048T>C ENSP00000163416.2:p.Phe350Leu
ENST00000555793.1:n.192T>C
XM_011537420.1:c.1048T>C XP_011535722.1:p.Phe350Leu
XM_011537420.3:c.1048T>C XP_011535722.1:p.Phe350Leu
NM_005113.4:c.1048T>C MANE Select NP_005104.4:p.Phe350Leu
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