Canonical Allele Identifier: CA2690731255

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447562-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447562G>T , CM000671.2:g.93447562G>T	GRCh38
NC_000009.11:g.96209844G>T , CM000671.1:g.96209844G>T	GRCh37
NC_000009.10:g.95249665G>T	NCBI36
NG_054727.1:g.11040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*49C>A MANE Select	ENSP00000364561.5:n.*49C>A
ENST00000649557.1:c.*49C>A	ENSP00000496904.1:n.*49C>A
ENST00000650398.1:n.843C>A
ENST00000375412.9:c.*49C>A	ENSP00000364561.5:n.*49C>A
ENST00000423591.5:c.*49C>A	ENSP00000414298.1:n.*49C>A
ENST00000428152.1:n.536C>A
ENST00000476484.5:c.*218C>A	ENSP00000429212.1:n.*218C>A
ENST00000479094.5:n.837C>A
ENST00000483056.5:n.642C>A
ENST00000483149.6:n.775C>A
ENST00000520403.1:n.817C>A
ENST00000520470.5:n.896C>A
ENST00000523407.1:n.698C>A
NM_198841.2:c.*49C>A	NP_942138.2:n.*49C>A
XM_005251736.2:c.907C>A	XP_005251793.1:n.907C>A
NM_001322224.2:c.*49C>A	NP_001309153.1:n.*49C>A
NM_198841.3:c.*49C>A	NP_942138.2:n.*49C>A
NR_136229.2:n.1119C>A
NR_136230.2:n.1240C>A
NR_136231.2:n.1833C>A
NR_136232.2:n.1045C>A
NR_136233.2:n.868C>A
NR_136234.2:n.902C>A
NR_136235.2:n.924C>A
NR_136236.2:n.1127C>A
NR_136237.2:n.1248C>A
NR_136238.2:n.989C>A
NM_198841.4:c.*49C>A MANE Select	NP_942138.2:n.*49C>A
NM_001322224.3:c.*49C>A	NP_001309153.1:n.*49C>A
NR_136231.3:n.1813C>A
NR_136232.3:n.1042C>A
NR_136233.3:n.865C>A
NR_136234.3:n.899C>A
NR_136235.3:n.921C>A
NR_136236.3:n.1124C>A
NR_136237.3:n.1245C>A
NR_136238.3:n.986C>A