Canonical Allele Identifier: CA868601084

Gene: FAM120AOS

Linked Data

• dbSNP Id: rs1337800441
• gnomAD v3: 9-93447557-A-G
• gnomAD v4: 9-93447557-A-G
• MyVariant Identifiers: chr9:g.96209839A>G (hg19) ; chr9:g.93447557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447557A>G , CM000671.2:g.93447557A>G	GRCh38
NC_000009.11:g.96209839A>G , CM000671.1:g.96209839A>G	GRCh37
NC_000009.10:g.95249660A>G	NCBI36
NG_054727.1:g.11045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*54T>C MANE Select	ENSP00000364561.5:n.*54T>C
ENST00000649557.1:c.*54T>C	ENSP00000496904.1:n.*54T>C
ENST00000650398.1:n.848T>C
ENST00000375412.9:c.*54T>C	ENSP00000364561.5:n.*54T>C
ENST00000423591.5:c.*54T>C	ENSP00000414298.1:n.*54T>C
ENST00000428152.1:n.541T>C
ENST00000476484.5:c.*223T>C	ENSP00000429212.1:n.*223T>C
ENST00000479094.5:n.842T>C
ENST00000483056.5:n.647T>C
ENST00000483149.6:n.780T>C
ENST00000520403.1:n.822T>C
ENST00000520470.5:n.901T>C
ENST00000523407.1:n.703T>C
NM_198841.2:c.*54T>C	NP_942138.2:n.*54T>C
XM_005251736.2:c.912T>C	XP_005251793.1:n.912T>C
NM_001322224.2:c.*54T>C	NP_001309153.1:n.*54T>C
NM_198841.3:c.*54T>C	NP_942138.2:n.*54T>C
NR_136229.2:n.1124T>C
NR_136230.2:n.1245T>C
NR_136231.2:n.1838T>C
NR_136232.2:n.1050T>C
NR_136233.2:n.873T>C
NR_136234.2:n.907T>C
NR_136235.2:n.929T>C
NR_136236.2:n.1132T>C
NR_136237.2:n.1253T>C
NR_136238.2:n.994T>C
NM_198841.4:c.*54T>C MANE Select	NP_942138.2:n.*54T>C
NM_001322224.3:c.*54T>C	NP_001309153.1:n.*54T>C
NR_136231.3:n.1818T>C
NR_136232.3:n.1047T>C
NR_136233.3:n.870T>C
NR_136234.3:n.904T>C
NR_136235.3:n.926T>C
NR_136236.3:n.1129T>C
NR_136237.3:n.1250T>C
NR_136238.3:n.991T>C