Canonical Allele Identifier: CA10484643
Community Standard Title: NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)
Gene: DNAAF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107218881G>A , CM000685.2:g.107218881G>A GRCh38
NC_000023.10:g.106462111G>A , CM000685.1:g.106462111G>A GRCh37
NC_000023.9:g.106348767G>A NCBI36
NG_016377.1:g.17250G>A

Transcript Alleles

HGVS Amino-acid Change
NM_173494.2:c.244G>A MANE Select NP_775765.1:p.Glu82Lys
ENST00000372453.8:c.244G>A MANE Select ENSP00000361531.3:p.Glu82Lys
NM_001169154.1:c.244G>A NP_001162625.1:p.Glu82Lys
NM_001169154.2:c.244G>A NP_001162625.1:p.Glu82Lys
NM_173494.1:c.244G>A NP_775765.1:p.Glu82Lys
ENST00000336387.4:c.244G>A ENSP00000337757.4:p.Glu82Lys
ENST00000372453.7:c.244G>A ENSP00000361531.3:p.Glu82Lys
ENST00000535523.5:c.244G>A ENSP00000441930.1:p.Glu82Lys
ENST00000535523.6:c.244G>A ENSP00000441930.1:p.Glu82Lys
ENST00000688816.1:c.244G>A ENSP00000508655.1:p.Glu82Lys
XM_011530855.1:c.244G>A XP_011529157.1:p.Glu82Lys
XM_011530855.2:c.244G>A XP_011529157.1:p.Glu82Lys