Canonical Allele Identifier: CA2690731243

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447543-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447543C>T , CM000671.2:g.93447543C>T	GRCh38
NC_000009.11:g.96209825C>T , CM000671.1:g.96209825C>T	GRCh37
NC_000009.10:g.95249646C>T	NCBI36
NG_054727.1:g.11059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*68G>A MANE Select	ENSP00000364561.5:n.*68G>A
ENST00000649557.1:c.*68G>A	ENSP00000496904.1:n.*68G>A
ENST00000650398.1:n.862G>A
ENST00000375412.9:c.*68G>A	ENSP00000364561.5:n.*68G>A
ENST00000423591.5:c.*68G>A	ENSP00000414298.1:n.*68G>A
ENST00000428152.1:n.555G>A
ENST00000476484.5:c.*237G>A	ENSP00000429212.1:n.*237G>A
ENST00000479094.5:n.856G>A
ENST00000483056.5:n.661G>A
ENST00000483149.6:n.794G>A
ENST00000520403.1:n.836G>A
ENST00000520470.5:n.915G>A
ENST00000523407.1:n.717G>A
NM_198841.2:c.*68G>A	NP_942138.2:n.*68G>A
XM_005251736.2:c.926G>A	XP_005251793.1:n.926G>A
NM_001322224.2:c.*68G>A	NP_001309153.1:n.*68G>A
NM_198841.3:c.*68G>A	NP_942138.2:n.*68G>A
NR_136229.2:n.1138G>A
NR_136230.2:n.1259G>A
NR_136231.2:n.1852G>A
NR_136232.2:n.1064G>A
NR_136233.2:n.887G>A
NR_136234.2:n.921G>A
NR_136235.2:n.943G>A
NR_136236.2:n.1146G>A
NR_136237.2:n.1267G>A
NR_136238.2:n.1008G>A
NM_198841.4:c.*68G>A MANE Select	NP_942138.2:n.*68G>A
NM_001322224.3:c.*68G>A	NP_001309153.1:n.*68G>A
NR_136231.3:n.1832G>A
NR_136232.3:n.1061G>A
NR_136233.3:n.884G>A
NR_136234.3:n.918G>A
NR_136235.3:n.940G>A
NR_136236.3:n.1143G>A
NR_136237.3:n.1264G>A
NR_136238.3:n.1005G>A