Canonical Allele Identifier: CA589226422
Gene: FAM120AOS HGNC NCBI

Linked Data

dbSNP Id: rs1477183754
gnomAD v2: 9-96209843-G-T
gnomAD v4: 9-93447561-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93447561G>T , CM000671.2:g.93447561G>T GRCh38
NC_000009.11:g.96209843G>T , CM000671.1:g.96209843G>T GRCh37
NC_000009.10:g.95249664G>T NCBI36
NG_054727.1:g.11041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375412.11:c.*50C>A MANE Select ENSP00000364561.5:n.*50C>A
ENST00000649557.1:c.*50C>A ENSP00000496904.1:n.*50C>A
ENST00000650398.1:n.844C>A
ENST00000375412.9:c.*50C>A ENSP00000364561.5:n.*50C>A
ENST00000423591.5:c.*50C>A ENSP00000414298.1:n.*50C>A
ENST00000428152.1:n.537C>A
ENST00000476484.5:c.*219C>A ENSP00000429212.1:n.*219C>A
ENST00000479094.5:n.838C>A
ENST00000483056.5:n.643C>A
ENST00000483149.6:n.776C>A
ENST00000520403.1:n.818C>A
ENST00000520470.5:n.897C>A
ENST00000523407.1:n.699C>A
NM_198841.2:c.*50C>A NP_942138.2:n.*50C>A
XM_005251736.2:c.908C>A XP_005251793.1:n.908C>A
NM_001322224.2:c.*50C>A NP_001309153.1:n.*50C>A
NM_198841.3:c.*50C>A NP_942138.2:n.*50C>A
NR_136229.2:n.1120C>A
NR_136230.2:n.1241C>A
NR_136231.2:n.1834C>A
NR_136232.2:n.1046C>A
NR_136233.2:n.869C>A
NR_136234.2:n.903C>A
NR_136235.2:n.925C>A
NR_136236.2:n.1128C>A
NR_136237.2:n.1249C>A
NR_136238.2:n.990C>A
NM_198841.4:c.*50C>A MANE Select NP_942138.2:n.*50C>A
NM_001322224.3:c.*50C>A NP_001309153.1:n.*50C>A
NR_136231.3:n.1814C>A
NR_136232.3:n.1043C>A
NR_136233.3:n.866C>A
NR_136234.3:n.900C>A
NR_136235.3:n.922C>A
NR_136236.3:n.1125C>A
NR_136237.3:n.1246C>A
NR_136238.3:n.987C>A