Canonical Allele Identifier: CA2690731257

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447564-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447564T>G , CM000671.2:g.93447564T>G	GRCh38
NC_000009.11:g.96209846T>G , CM000671.1:g.96209846T>G	GRCh37
NC_000009.10:g.95249667T>G	NCBI36
NG_054727.1:g.11038A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*47A>C MANE Select	ENSP00000364561.5:n.*47A>C
ENST00000649557.1:c.*47A>C	ENSP00000496904.1:n.*47A>C
ENST00000650398.1:n.841A>C
ENST00000375412.9:c.*47A>C	ENSP00000364561.5:n.*47A>C
ENST00000423591.5:c.*47A>C	ENSP00000414298.1:n.*47A>C
ENST00000428152.1:n.534A>C
ENST00000476484.5:c.*216A>C	ENSP00000429212.1:n.*216A>C
ENST00000479094.5:n.835A>C
ENST00000483056.5:n.640A>C
ENST00000483149.6:n.773A>C
ENST00000520403.1:n.815A>C
ENST00000520470.5:n.894A>C
ENST00000523407.1:n.696A>C
NM_198841.2:c.*47A>C	NP_942138.2:n.*47A>C
XM_005251736.2:c.905A>C	XP_005251793.1:n.905A>C
NM_001322224.2:c.*47A>C	NP_001309153.1:n.*47A>C
NM_198841.3:c.*47A>C	NP_942138.2:n.*47A>C
NR_136229.2:n.1117A>C
NR_136230.2:n.1238A>C
NR_136231.2:n.1831A>C
NR_136232.2:n.1043A>C
NR_136233.2:n.866A>C
NR_136234.2:n.900A>C
NR_136235.2:n.922A>C
NR_136236.2:n.1125A>C
NR_136237.2:n.1246A>C
NR_136238.2:n.987A>C
NM_198841.4:c.*47A>C MANE Select	NP_942138.2:n.*47A>C
NM_001322224.3:c.*47A>C	NP_001309153.1:n.*47A>C
NR_136231.3:n.1811A>C
NR_136232.3:n.1040A>C
NR_136233.3:n.863A>C
NR_136234.3:n.897A>C
NR_136235.3:n.919A>C
NR_136236.3:n.1122A>C
NR_136237.3:n.1243A>C
NR_136238.3:n.984A>C