Canonical Allele Identifier: CA466069691

Gene: FAM120AOS

Linked Data

• dbSNP Id: rs1171851050
• gnomAD v4: 9-93447641-T-C
• MyVariant Identifiers: chr9:g.96209923T>C (hg19) ; chr9:g.93447641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447641T>C , CM000671.2:g.93447641T>C	GRCh38
NC_000009.11:g.96209923T>C , CM000671.1:g.96209923T>C	GRCh37
NC_000009.10:g.95249744T>C	NCBI36
NG_054727.1:g.10961A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.741A>G MANE Select	ENSP00000364561.5:p.Pro247=
ENST00000649557.1:c.195A>G	ENSP00000496904.1:p.Pro65=
ENST00000650398.1:n.764A>G
ENST00000375412.9:c.741A>G	ENSP00000364561.5:p.Pro247=
ENST00000423591.5:c.195A>G	ENSP00000414298.1:p.Pro65=
ENST00000428152.1:n.457A>G
ENST00000428378.1:c.192A>G	ENSP00000416978.1:p.Pro64=
ENST00000476484.5:c.*139A>G	ENSP00000429212.1:n.*139A>G
ENST00000479094.5:n.758A>G
ENST00000483056.5:n.563A>G
ENST00000483149.6:n.696A>G
ENST00000520403.1:n.738A>G
ENST00000520470.5:n.817A>G
ENST00000523407.1:n.619A>G
NM_198841.2:c.741A>G	NP_942138.2:p.Pro247=
XM_005251736.2:c.828A>G	XP_005251793.1:p.Pro276=
NM_001322224.2:c.195A>G	NP_001309153.1:p.Pro65=
NM_198841.3:c.741A>G	NP_942138.2:p.Pro247=
NR_136229.2:n.1040A>G
NR_136230.2:n.1161A>G
NR_136231.2:n.1754A>G
NR_136232.2:n.966A>G
NR_136233.2:n.789A>G
NR_136234.2:n.823A>G
NR_136235.2:n.845A>G
NR_136236.2:n.1048A>G
NR_136237.2:n.1169A>G
NR_136238.2:n.910A>G
NM_198841.4:c.741A>G MANE Select	NP_942138.2:p.Pro247=
NM_001322224.3:c.195A>G	NP_001309153.1:p.Pro65=
NR_136231.3:n.1734A>G
NR_136232.3:n.963A>G
NR_136233.3:n.786A>G
NR_136234.3:n.820A>G
NR_136235.3:n.842A>G
NR_136236.3:n.1045A>G
NR_136237.3:n.1166A>G
NR_136238.3:n.907A>G