Canonical Allele Identifier: CA5131440
Community Standard Title: NM_014612.5(FAM120A):c.474+192A>G
Gene: FAM120A HGNC NCBI
FAM120AOS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93452581A>G , CM000671.2:g.93452581A>G GRCh38
NC_000009.11:g.96214863A>G , CM000671.1:g.96214863A>G GRCh37
NC_000009.10:g.95254684A>G NCBI36
NG_054727.1:g.6021T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014612.5:c.474+192A>G (FAM120A) MANE Select NP_055427.2:n.474+192A>G
NM_198841.4:c.129T>C (FAM120AOS) MANE Select NP_942138.2:p.Ala43=
ENST00000277165.11:c.474+192A>G (FAM120A) MANE Select ENSP00000277165.5:n.474+192A>G
ENST00000375412.11:c.129T>C (FAM120AOS) MANE Select ENSP00000364561.5:p.Ala43=
NM_001286722.1:c.474+192A>G (FAM120A) NP_001273651.1:n.474+192A>G
NM_001286722.2:c.474+192A>G (FAM120A) NP_001273651.1:n.474+192A>G
NM_001286723.1:c.474+192A>G (FAM120A) NP_001273652.1:n.474+192A>G
NM_001286723.2:c.474+192A>G (FAM120A) NP_001273652.1:n.474+192A>G
NM_001286724.1:c.474+192A>G (FAM120A) NP_001273653.1:n.474+192A>G
NM_001286724.2:c.474+192A>G (FAM120A) NP_001273653.1:n.474+192A>G
NM_014612.4:c.474+192A>G (FAM120A) NP_055427.2:n.474+192A>G
NM_198841.2:c.129T>C (FAM120AOS) NP_942138.2:p.Ala43=
NM_198841.3:c.129T>C (FAM120AOS) NP_942138.2:p.Ala43=
NR_136229.2:n.862+159T>C (FAM120AOS)
NR_136230.2:n.862+159T>C (FAM120AOS)
NR_136231.2:n.1021T>C (FAM120AOS)
NR_136231.3:n.1001T>C (FAM120AOS)
ENST00000277165.10:c.474+192A>G (FAM120A) ENSP00000277165.5:n.474+192A>G
ENST00000375389.7:c.474+192A>G (FAM120A) ENSP00000364538.3:n.474+192A>G
ENST00000375412.9:c.129T>C (FAM120AOS) ENSP00000364561.5:p.Ala43=
ENST00000446420.2:c.6+192A>G (FAM120A) ENSP00000396534.2:n.6+192A>G
ENST00000483149.6:n.518+159T>C (FAM120AOS)
ENST00000520470.5:n.518+159T>C (FAM120AOS)
ENST00000698944.1:c.474+192A>G (FAM120A) ENSP00000514050.1:n.474+192A>G
XM_005251842.3:c.474+192A>G (FAM120A) XP_005251899.1:n.474+192A>G
XM_005251842.5:c.474+192A>G (FAM120A) XP_005251899.1:n.474+192A>G
XM_011518412.1:c.474+192A>G (FAM120A) XP_011516714.1:n.474+192A>G
XM_011518412.2:c.474+192A>G (FAM120A) XP_011516714.1:n.474+192A>G
XM_011518413.1:c.474+192A>G (FAM120A) XP_011516715.1:n.474+192A>G
XM_011518413.2:c.474+192A>G (FAM120A) XP_011516715.1:n.474+192A>G
XM_011518414.1:c.474+192A>G (FAM120A) XP_011516716.1:n.474+192A>G
XM_011518414.3:c.474+192A>G (FAM120A) XP_011516716.1:n.474+192A>G
XM_011518415.1:c.474+192A>G (FAM120A) XP_011516717.1:n.474+192A>G
XM_011518416.1:c.474+192A>G (FAM120A) XP_011516718.1:n.474+192A>G
XM_011518416.3:c.474+192A>G (FAM120A) XP_011516718.1:n.474+192A>G