Canonical Allele Identifier: CA1126865748

Gene: FAM120AOS

Linked Data

• dbSNP Id: rs1856894734
• gnomAD v3: 9-93447554-G-A
• gnomAD v4: 9-93447554-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447554G>A , CM000671.2:g.93447554G>A	GRCh38
NC_000009.11:g.96209836G>A , CM000671.1:g.96209836G>A	GRCh37
NC_000009.10:g.95249657G>A	NCBI36
NG_054727.1:g.11048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*57C>T MANE Select	ENSP00000364561.5:n.*57C>T
ENST00000649557.1:c.*57C>T	ENSP00000496904.1:n.*57C>T
ENST00000650398.1:n.851C>T
ENST00000375412.9:c.*57C>T	ENSP00000364561.5:n.*57C>T
ENST00000423591.5:c.*57C>T	ENSP00000414298.1:n.*57C>T
ENST00000428152.1:n.544C>T
ENST00000476484.5:c.*226C>T	ENSP00000429212.1:n.*226C>T
ENST00000479094.5:n.845C>T
ENST00000483056.5:n.650C>T
ENST00000483149.6:n.783C>T
ENST00000520403.1:n.825C>T
ENST00000520470.5:n.904C>T
ENST00000523407.1:n.706C>T
NM_198841.2:c.*57C>T	NP_942138.2:n.*57C>T
XM_005251736.2:c.915C>T	XP_005251793.1:n.915C>T
NM_001322224.2:c.*57C>T	NP_001309153.1:n.*57C>T
NM_198841.3:c.*57C>T	NP_942138.2:n.*57C>T
NR_136229.2:n.1127C>T
NR_136230.2:n.1248C>T
NR_136231.2:n.1841C>T
NR_136232.2:n.1053C>T
NR_136233.2:n.876C>T
NR_136234.2:n.910C>T
NR_136235.2:n.932C>T
NR_136236.2:n.1135C>T
NR_136237.2:n.1256C>T
NR_136238.2:n.997C>T
NM_198841.4:c.*57C>T MANE Select	NP_942138.2:n.*57C>T
NM_001322224.3:c.*57C>T	NP_001309153.1:n.*57C>T
NR_136231.3:n.1821C>T
NR_136232.3:n.1050C>T
NR_136233.3:n.873C>T
NR_136234.3:n.907C>T
NR_136235.3:n.929C>T
NR_136236.3:n.1132C>T
NR_136237.3:n.1253C>T
NR_136238.3:n.994C>T