Canonical Allele Identifier: CA10484646
Community Standard Title: NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)
Gene: DNAAF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107218927G>T , CM000685.2:g.107218927G>T GRCh38
NC_000023.10:g.106462157G>T , CM000685.1:g.106462157G>T GRCh37
NC_000023.9:g.106348813G>T NCBI36
NG_016377.1:g.17296G>T

Transcript Alleles

HGVS Amino-acid Change
NM_173494.2:c.290G>T MANE Select NP_775765.1:p.Gly97Val
ENST00000372453.8:c.290G>T MANE Select ENSP00000361531.3:p.Gly97Val
NM_001169154.1:c.290G>T NP_001162625.1:p.Gly97Val
NM_001169154.2:c.290G>T NP_001162625.1:p.Gly97Val
NM_173494.1:c.290G>T NP_775765.1:p.Gly97Val
ENST00000336387.4:c.290G>T ENSP00000337757.4:p.Gly97Val
ENST00000372453.7:c.290G>T ENSP00000361531.3:p.Gly97Val
ENST00000535523.5:c.290G>T ENSP00000441930.1:p.Gly97Val
ENST00000535523.6:c.290G>T ENSP00000441930.1:p.Gly97Val
ENST00000688816.1:c.290G>T ENSP00000508655.1:p.Gly97Val
XM_011530855.1:c.290G>T XP_011529157.1:p.Gly97Val
XM_011530855.2:c.290G>T XP_011529157.1:p.Gly97Val