Canonical Allele Identifier: CA2690731241

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447540-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447540T>C , CM000671.2:g.93447540T>C	GRCh38
NC_000009.11:g.96209822T>C , CM000671.1:g.96209822T>C	GRCh37
NC_000009.10:g.95249643T>C	NCBI36
NG_054727.1:g.11062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*71A>G MANE Select	ENSP00000364561.5:n.*71A>G
ENST00000649557.1:c.*71A>G	ENSP00000496904.1:n.*71A>G
ENST00000650398.1:n.865A>G
ENST00000375412.9:c.*71A>G	ENSP00000364561.5:n.*71A>G
ENST00000423591.5:c.*71A>G	ENSP00000414298.1:n.*71A>G
ENST00000428152.1:n.558A>G
ENST00000476484.5:c.*240A>G	ENSP00000429212.1:n.*240A>G
ENST00000479094.5:n.859A>G
ENST00000483056.5:n.664A>G
ENST00000483149.6:n.797A>G
ENST00000520403.1:n.839A>G
ENST00000520470.5:n.918A>G
ENST00000523407.1:n.720A>G
NM_198841.2:c.*71A>G	NP_942138.2:n.*71A>G
XM_005251736.2:c.929A>G	XP_005251793.1:n.929A>G
NM_001322224.2:c.*71A>G	NP_001309153.1:n.*71A>G
NM_198841.3:c.*71A>G	NP_942138.2:n.*71A>G
NR_136229.2:n.1141A>G
NR_136230.2:n.1262A>G
NR_136231.2:n.1855A>G
NR_136232.2:n.1067A>G
NR_136233.2:n.890A>G
NR_136234.2:n.924A>G
NR_136235.2:n.946A>G
NR_136236.2:n.1149A>G
NR_136237.2:n.1270A>G
NR_136238.2:n.1011A>G
NM_198841.4:c.*71A>G MANE Select	NP_942138.2:n.*71A>G
NM_001322224.3:c.*71A>G	NP_001309153.1:n.*71A>G
NR_136231.3:n.1835A>G
NR_136232.3:n.1064A>G
NR_136233.3:n.887A>G
NR_136234.3:n.921A>G
NR_136235.3:n.943A>G
NR_136236.3:n.1146A>G
NR_136237.3:n.1267A>G
NR_136238.3:n.1008A>G