Canonical Allele Identifier: CA2579384375

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447553-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447553G>T , CM000671.2:g.93447553G>T	GRCh38
NC_000009.11:g.96209835G>T , CM000671.1:g.96209835G>T	GRCh37
NC_000009.10:g.95249656G>T	NCBI36
NG_054727.1:g.11049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*58C>A MANE Select	ENSP00000364561.5:n.*58C>A
ENST00000649557.1:c.*58C>A	ENSP00000496904.1:n.*58C>A
ENST00000650398.1:n.852C>A
ENST00000375412.9:c.*58C>A	ENSP00000364561.5:n.*58C>A
ENST00000423591.5:c.*58C>A	ENSP00000414298.1:n.*58C>A
ENST00000428152.1:n.545C>A
ENST00000476484.5:c.*227C>A	ENSP00000429212.1:n.*227C>A
ENST00000479094.5:n.846C>A
ENST00000483056.5:n.651C>A
ENST00000483149.6:n.784C>A
ENST00000520403.1:n.826C>A
ENST00000520470.5:n.905C>A
ENST00000523407.1:n.707C>A
NM_198841.2:c.*58C>A	NP_942138.2:n.*58C>A
XM_005251736.2:c.916C>A	XP_005251793.1:n.916C>A
NM_001322224.2:c.*58C>A	NP_001309153.1:n.*58C>A
NM_198841.3:c.*58C>A	NP_942138.2:n.*58C>A
NR_136229.2:n.1128C>A
NR_136230.2:n.1249C>A
NR_136231.2:n.1842C>A
NR_136232.2:n.1054C>A
NR_136233.2:n.877C>A
NR_136234.2:n.911C>A
NR_136235.2:n.933C>A
NR_136236.2:n.1136C>A
NR_136237.2:n.1257C>A
NR_136238.2:n.998C>A
NM_198841.4:c.*58C>A MANE Select	NP_942138.2:n.*58C>A
NM_001322224.3:c.*58C>A	NP_001309153.1:n.*58C>A
NR_136231.3:n.1822C>A
NR_136232.3:n.1051C>A
NR_136233.3:n.874C>A
NR_136234.3:n.908C>A
NR_136235.3:n.930C>A
NR_136236.3:n.1133C>A
NR_136237.3:n.1254C>A
NR_136238.3:n.995C>A