Canonical Allele Identifier: CA309536470
Community Standard Title: NM_001193646.2(ATF5):c.48C>T (p.Leu16=)
Gene: ATF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49930898C>T , CM000681.2:g.49930898C>T GRCh38
NC_000019.9:g.50434155C>T , CM000681.1:g.50434155C>T GRCh37
NC_000019.8:g.55125967C>T NCBI36
NG_021170.1:g.3608G>A
NG_023448.1:g.3834G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001193646.2:c.48C>T MANE Select NP_001180575.1:p.Leu16=
ENST00000423777.7:c.48C>T MANE Select ENSP00000396954.1:p.Leu16=
NM_001193646.1:c.48C>T NP_001180575.1:p.Leu16=
NM_001290746.1:c.48C>T NP_001277675.1:p.Leu16=
NM_001290746.2:c.48C>T NP_001277675.1:p.Leu16=
NM_012068.5:c.48C>T NP_036200.2:p.Leu16=
NM_012068.6:c.48C>T NP_036200.2:p.Leu16=
ENST00000423777.6:c.48C>T ENSP00000396954.1:p.Leu16=
ENST00000451973.1:c.191+20993G>A ENSP00000391489.1:n.191+20993G>A
ENST00000595125.5:c.48C>T ENSP00000470633.1:p.Leu16=
ENST00000596658.1:c.48C>T ENSP00000470464.1:p.Leu16=
ENST00000597227.5:c.48C>T ENSP00000470978.1:p.Leu16=
ENST00000600336.1:c.48C>T ENSP00000471162.1:p.Leu16=
ENST00000676286.1:c.172C>T ENSP00000502402.1:p.Pro58Ser
XM_011526629.1:c.48C>T XP_011524931.1:p.Leu16=
XM_011526629.3:c.48C>T XP_011524931.1:p.Leu16=