Canonical Allele Identifier: CA5131635
Community Standard Title: NM_014612.5(FAM120A):c.1158C>T (p.Gly386=)
Gene: FAM120A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93516009C>T , CM000671.2:g.93516009C>T GRCh38
NC_000009.11:g.96278291C>T , CM000671.1:g.96278291C>T GRCh37
NC_000009.10:g.95318112C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014612.5:c.1158C>T MANE Select NP_055427.2:p.Gly386=
ENST00000277165.11:c.1158C>T MANE Select ENSP00000277165.5:p.Gly386=
NM_001286722.1:c.1155C>T NP_001273651.1:p.Gly385=
NM_001286722.2:c.1155C>T NP_001273651.1:p.Gly385=
NM_001286723.1:c.1158C>T NP_001273652.1:p.Gly386=
NM_001286723.2:c.1158C>T NP_001273652.1:p.Gly386=
NM_001286724.1:c.1158C>T NP_001273653.1:p.Gly386=
NM_001286724.2:c.1158C>T NP_001273653.1:p.Gly386=
NM_014612.4:c.1158C>T NP_055427.2:p.Gly386=
ENST00000277165.10:c.1158C>T ENSP00000277165.5:p.Gly386=
ENST00000375389.7:c.1158C>T ENSP00000364538.3:p.Gly386=
ENST00000446420.2:c.690C>T ENSP00000396534.2:p.Gly230=
ENST00000698944.1:c.1158C>T ENSP00000514050.1:p.Gly386=
XM_005251842.3:c.1158C>T XP_005251899.1:p.Gly386=
XM_005251842.5:c.1158C>T XP_005251899.1:p.Gly386=
XM_011518412.1:c.1158C>T XP_011516714.1:p.Gly386=
XM_011518412.2:c.1158C>T XP_011516714.1:p.Gly386=
XM_011518413.1:c.1158C>T XP_011516715.1:p.Gly386=
XM_011518413.2:c.1158C>T XP_011516715.1:p.Gly386=
XM_011518414.1:c.1155C>T XP_011516716.1:p.Gly385=
XM_011518414.3:c.1155C>T XP_011516716.1:p.Gly385=
XM_011518415.1:c.1158C>T XP_011516717.1:p.Gly386=
XM_011518416.1:c.1158C>T XP_011516718.1:p.Gly386=
XM_011518416.3:c.1158C>T XP_011516718.1:p.Gly386=