Canonical Allele Identifier: CA2690731256

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447563-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447563G>T , CM000671.2:g.93447563G>T	GRCh38
NC_000009.11:g.96209845G>T , CM000671.1:g.96209845G>T	GRCh37
NC_000009.10:g.95249666G>T	NCBI36
NG_054727.1:g.11039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*48C>A MANE Select	ENSP00000364561.5:n.*48C>A
ENST00000649557.1:c.*48C>A	ENSP00000496904.1:n.*48C>A
ENST00000650398.1:n.842C>A
ENST00000375412.9:c.*48C>A	ENSP00000364561.5:n.*48C>A
ENST00000423591.5:c.*48C>A	ENSP00000414298.1:n.*48C>A
ENST00000428152.1:n.535C>A
ENST00000476484.5:c.*217C>A	ENSP00000429212.1:n.*217C>A
ENST00000479094.5:n.836C>A
ENST00000483056.5:n.641C>A
ENST00000483149.6:n.774C>A
ENST00000520403.1:n.816C>A
ENST00000520470.5:n.895C>A
ENST00000523407.1:n.697C>A
NM_198841.2:c.*48C>A	NP_942138.2:n.*48C>A
XM_005251736.2:c.906C>A	XP_005251793.1:n.906C>A
NM_001322224.2:c.*48C>A	NP_001309153.1:n.*48C>A
NM_198841.3:c.*48C>A	NP_942138.2:n.*48C>A
NR_136229.2:n.1118C>A
NR_136230.2:n.1239C>A
NR_136231.2:n.1832C>A
NR_136232.2:n.1044C>A
NR_136233.2:n.867C>A
NR_136234.2:n.901C>A
NR_136235.2:n.923C>A
NR_136236.2:n.1126C>A
NR_136237.2:n.1247C>A
NR_136238.2:n.988C>A
NM_198841.4:c.*48C>A MANE Select	NP_942138.2:n.*48C>A
NM_001322224.3:c.*48C>A	NP_001309153.1:n.*48C>A
NR_136231.3:n.1812C>A
NR_136232.3:n.1041C>A
NR_136233.3:n.864C>A
NR_136234.3:n.898C>A
NR_136235.3:n.920C>A
NR_136236.3:n.1123C>A
NR_136237.3:n.1244C>A
NR_136238.3:n.985C>A