Canonical Allele Identifier: CA407463012
Community Standard Title: NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)
Gene: DNAAF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55166338G>A , CM000681.2:g.55166338G>A GRCh38
NC_000019.9:g.55677706G>A , CM000681.1:g.55677706G>A GRCh37
NC_000019.8:g.60369518G>A NCBI36
NG_032759.1:g.5385C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.76C>T MANE Select NP_001243644.1:p.Gln26Ter
ENST00000524407.7:c.76C>T MANE Select ENSP00000432046.3:p.Gln26Ter
NM_001256714.1:c.217C>T NP_001243643.1:p.Gln73Ter
NM_001256715.1:c.76C>T NP_001243644.1:p.Gln26Ter
NM_001256716.1:c.-163C>T NP_001243645.1:n.-163C>T
NM_001256716.2:c.-163C>T NP_001243645.1:n.-163C>T
NM_178837.4:c.217C>T NP_849159.2:p.Gln73Ter
ENST00000391720.8:c.217C>T ENSP00000375600.5:p.Gln73Ter
ENST00000455045.5:c.-163C>T ENSP00000394343.1:n.-163C>T
ENST00000524407.6:c.76C>T ENSP00000432046.2:p.Gln26Ter
ENST00000526003.5:c.76C>T ENSP00000473009.1:p.Gln26Ter
ENST00000527223.6:c.217C>T ENSP00000436975.2:p.Gln73Ter
ENST00000528412.5:c.76C>T ENSP00000433826.2:p.Gln26Ter
ENST00000528476.1:n.291C>T
ENST00000532817.5:c.-56C>T ENSP00000432838.2:n.-56C>T
ENST00000534170.5:c.-56C>T ENSP00000432360.2:n.-56C>T
ENST00000534214.1:c.76C>T ENSP00000433247.2:p.Gln26Ter
ENST00000586877.1:n.198C>T