Canonical Allele Identifier: CA356759898

Gene: GUF1

Linked Data

• ClinVar Variation Id: 1513706
• ClinVar RCV Id: RCV002026304
• dbSNP Id: rs894257532
• MyVariant Identifiers: chr4:g.44680694G>T (hg19) ; chr4:g.44678677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.44678677G>T , CM000666.2:g.44678677G>T	GRCh38
NC_000004.11:g.44680694G>T , CM000666.1:g.44680694G>T	GRCh37
NC_000004.10:g.44375451G>T	NCBI36
NG_051569.1:g.5283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281543.6:c.55G>T MANE Select	ENSP00000281543.5:p.Ala19Ser
ENST00000281543.5:c.55G>T	ENSP00000281543.5:p.Ala19Ser
ENST00000506793.5:n.159+92G>T
ENST00000513775.1:c.55G>T	ENSP00000422681.1:p.Ala19Ser
NM_021927.2:c.55G>T	NP_068746.2:p.Ala19Ser
XM_005248122.2:c.-806G>T	XP_005248179.1:n.-806G>T
XM_011513732.1:c.55G>T	XP_011512034.1:p.Ala19Ser
XM_011513733.1:c.15+92G>T	XP_011512035.1:n.15+92G>T
XM_011513734.1:c.55G>T	XP_011512036.1:p.Ala19Ser
NM_001345867.1:c.-914G>T	NP_001332796.1:n.-914G>T
NM_001345868.1:c.55G>T	NP_001332797.1:p.Ala19Ser
NM_001345869.1:c.-806G>T	NP_001332798.1:n.-806G>T
XM_024454178.1:c.15+92G>T	XP_024309946.1:n.15+92G>T
NM_021927.3:c.55G>T MANE Select	NP_068746.2:p.Ala19Ser
NM_001345867.2:c.-914G>T	NP_001332796.1:n.-914G>T
NM_001345868.2:c.55G>T	NP_001332797.1:p.Ala19Ser
NM_001345869.2:c.-806G>T	NP_001332798.1:n.-806G>T