Canonical Allele Identifier: CA1864666298

Gene: FAM120AOS

Linked Data

• dbSNP Id: rs1564290718
• gnomAD v4: 9-93447560-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447560A>C , CM000671.2:g.93447560A>C	GRCh38
NC_000009.11:g.96209842A>C , CM000671.1:g.96209842A>C	GRCh37
NC_000009.10:g.95249663A>C	NCBI36
NG_054727.1:g.11042T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*51T>G MANE Select	ENSP00000364561.5:n.*51T>G
ENST00000649557.1:c.*51T>G	ENSP00000496904.1:n.*51T>G
ENST00000650398.1:n.845T>G
ENST00000375412.9:c.*51T>G	ENSP00000364561.5:n.*51T>G
ENST00000423591.5:c.*51T>G	ENSP00000414298.1:n.*51T>G
ENST00000428152.1:n.538T>G
ENST00000476484.5:c.*220T>G	ENSP00000429212.1:n.*220T>G
ENST00000479094.5:n.839T>G
ENST00000483056.5:n.644T>G
ENST00000483149.6:n.777T>G
ENST00000520403.1:n.819T>G
ENST00000520470.5:n.898T>G
ENST00000523407.1:n.700T>G
NM_198841.2:c.*51T>G	NP_942138.2:n.*51T>G
XM_005251736.2:c.909T>G	XP_005251793.1:n.909T>G
NM_001322224.2:c.*51T>G	NP_001309153.1:n.*51T>G
NM_198841.3:c.*51T>G	NP_942138.2:n.*51T>G
NR_136229.2:n.1121T>G
NR_136230.2:n.1242T>G
NR_136231.2:n.1835T>G
NR_136232.2:n.1047T>G
NR_136233.2:n.870T>G
NR_136234.2:n.904T>G
NR_136235.2:n.926T>G
NR_136236.2:n.1129T>G
NR_136237.2:n.1250T>G
NR_136238.2:n.991T>G
NM_198841.4:c.*51T>G MANE Select	NP_942138.2:n.*51T>G
NM_001322224.3:c.*51T>G	NP_001309153.1:n.*51T>G
NR_136231.3:n.1815T>G
NR_136232.3:n.1044T>G
NR_136233.3:n.867T>G
NR_136234.3:n.901T>G
NR_136235.3:n.923T>G
NR_136236.3:n.1126T>G
NR_136237.3:n.1247T>G
NR_136238.3:n.988T>G