Canonical Allele Identifier: CA2690731247

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447552-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447552T>G , CM000671.2:g.93447552T>G	GRCh38
NC_000009.11:g.96209834T>G , CM000671.1:g.96209834T>G	GRCh37
NC_000009.10:g.95249655T>G	NCBI36
NG_054727.1:g.11050A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375412.11:c.*59A>C MANE Select	ENSP00000364561.5:n.*59A>C
ENST00000649557.1:c.*59A>C	ENSP00000496904.1:n.*59A>C
ENST00000650398.1:n.853A>C
ENST00000375412.9:c.*59A>C	ENSP00000364561.5:n.*59A>C
ENST00000423591.5:c.*59A>C	ENSP00000414298.1:n.*59A>C
ENST00000428152.1:n.546A>C
ENST00000476484.5:c.*228A>C	ENSP00000429212.1:n.*228A>C
ENST00000479094.5:n.847A>C
ENST00000483056.5:n.652A>C
ENST00000483149.6:n.785A>C
ENST00000520403.1:n.827A>C
ENST00000520470.5:n.906A>C
ENST00000523407.1:n.708A>C
NM_198841.2:c.*59A>C	NP_942138.2:n.*59A>C
XM_005251736.2:c.917A>C	XP_005251793.1:n.917A>C
NM_001322224.2:c.*59A>C	NP_001309153.1:n.*59A>C
NM_198841.3:c.*59A>C	NP_942138.2:n.*59A>C
NR_136229.2:n.1129A>C
NR_136230.2:n.1250A>C
NR_136231.2:n.1843A>C
NR_136232.2:n.1055A>C
NR_136233.2:n.878A>C
NR_136234.2:n.912A>C
NR_136235.2:n.934A>C
NR_136236.2:n.1137A>C
NR_136237.2:n.1258A>C
NR_136238.2:n.999A>C
NM_198841.4:c.*59A>C MANE Select	NP_942138.2:n.*59A>C
NM_001322224.3:c.*59A>C	NP_001309153.1:n.*59A>C
NR_136231.3:n.1823A>C
NR_136232.3:n.1052A>C
NR_136233.3:n.875A>C
NR_136234.3:n.909A>C
NR_136235.3:n.931A>C
NR_136236.3:n.1134A>C
NR_136237.3:n.1255A>C
NR_136238.3:n.996A>C