Canonical Allele Identifier: CA406915928
Community Standard Title: NM_001193646.2(ATF5):c.53C>A (p.Ala18Asp)
Gene: ATF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49930903C>A , CM000681.2:g.49930903C>A GRCh38
NC_000019.9:g.50434160C>A , CM000681.1:g.50434160C>A GRCh37
NC_000019.8:g.55125972C>A NCBI36
NG_021170.1:g.3603G>T
NG_023448.1:g.3829G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001193646.2:c.53C>A MANE Select NP_001180575.1:p.Ala18Asp
ENST00000423777.7:c.53C>A MANE Select ENSP00000396954.1:p.Ala18Asp
NM_001193646.1:c.53C>A NP_001180575.1:p.Ala18Asp
NM_001290746.1:c.53C>A NP_001277675.1:p.Ala18Asp
NM_001290746.2:c.53C>A NP_001277675.1:p.Ala18Asp
NM_012068.5:c.53C>A NP_036200.2:p.Ala18Asp
NM_012068.6:c.53C>A NP_036200.2:p.Ala18Asp
ENST00000423777.6:c.53C>A ENSP00000396954.1:p.Ala18Asp
ENST00000451973.1:c.191+20988G>T ENSP00000391489.1:n.191+20988G>T
ENST00000595125.5:c.53C>A ENSP00000470633.1:p.Ala18Asp
ENST00000596658.1:c.53C>A ENSP00000470464.1:p.Ala18Asp
ENST00000597227.5:c.53C>A ENSP00000470978.1:p.Ala18Asp
ENST00000600336.1:c.53C>A ENSP00000471162.1:p.Ala18Asp
ENST00000676286.1:c.177C>A ENSP00000502402.1:p.Ser59Arg
XM_011526629.1:c.53C>A XP_011524931.1:p.Ala18Asp
XM_011526629.3:c.53C>A XP_011524931.1:p.Ala18Asp