Canonical Allele Identifier: CA413887387
Community Standard Title: NM_173494.2(DNAAF6):c.125A>G (p.Glu42Gly)
Gene: DNAAF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107213000A>G , CM000685.2:g.107213000A>G GRCh38
NC_000023.10:g.106456230A>G , CM000685.1:g.106456230A>G GRCh37
NC_000023.9:g.106342886A>G NCBI36
NG_016377.1:g.11369A>G

Transcript Alleles

HGVS Amino-acid Change
NM_173494.2:c.125A>G MANE Select NP_775765.1:p.Glu42Gly
ENST00000372453.8:c.125A>G MANE Select ENSP00000361531.3:p.Glu42Gly
NM_001169154.1:c.125A>G NP_001162625.1:p.Glu42Gly
NM_001169154.2:c.125A>G NP_001162625.1:p.Glu42Gly
NM_173494.1:c.125A>G NP_775765.1:p.Glu42Gly
ENST00000336387.4:c.125A>G ENSP00000337757.4:p.Glu42Gly
ENST00000372453.7:c.125A>G ENSP00000361531.3:p.Glu42Gly
ENST00000535523.5:c.125A>G ENSP00000441930.1:p.Glu42Gly
ENST00000535523.6:c.125A>G ENSP00000441930.1:p.Glu42Gly
ENST00000673764.1:c.125A>G ENSP00000501176.1:p.Glu42Gly
ENST00000688816.1:c.125A>G ENSP00000508655.1:p.Glu42Gly
XM_011530855.1:c.125A>G XP_011529157.1:p.Glu42Gly
XM_011530855.2:c.125A>G XP_011529157.1:p.Glu42Gly