Canonical Allele Identifier: CA374064333

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447640-T-G
• MyVariant Identifiers: chr9:g.96209922T>G (hg19) ; chr9:g.93447640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447640T>G , CM000671.2:g.93447640T>G	GRCh38
NC_000009.11:g.96209922T>G , CM000671.1:g.96209922T>G	GRCh37
NC_000009.10:g.95249743T>G	NCBI36
NG_054727.1:g.10962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.742A>C MANE Select	ENSP00000364561.5:p.Thr248Pro
ENST00000649557.1:c.196A>C	ENSP00000496904.1:p.Thr66Pro
ENST00000650398.1:n.765A>C
ENST00000375412.9:c.742A>C	ENSP00000364561.5:p.Thr248Pro
ENST00000423591.5:c.196A>C	ENSP00000414298.1:p.Thr66Pro
ENST00000428152.1:n.458A>C
ENST00000428378.1:c.193A>C	ENSP00000416978.1:p.Thr65Pro
ENST00000476484.5:c.*140A>C	ENSP00000429212.1:n.*140A>C
ENST00000479094.5:n.759A>C
ENST00000483056.5:n.564A>C
ENST00000483149.6:n.697A>C
ENST00000520403.1:n.739A>C
ENST00000520470.5:n.818A>C
ENST00000523407.1:n.620A>C
NM_198841.2:c.742A>C	NP_942138.2:p.Thr248Pro
XM_005251736.2:c.829A>C	XP_005251793.1:p.Thr277Pro
NM_001322224.2:c.196A>C	NP_001309153.1:p.Thr66Pro
NM_198841.3:c.742A>C	NP_942138.2:p.Thr248Pro
NR_136229.2:n.1041A>C
NR_136230.2:n.1162A>C
NR_136231.2:n.1755A>C
NR_136232.2:n.967A>C
NR_136233.2:n.790A>C
NR_136234.2:n.824A>C
NR_136235.2:n.846A>C
NR_136236.2:n.1049A>C
NR_136237.2:n.1170A>C
NR_136238.2:n.911A>C
NM_198841.4:c.742A>C MANE Select	NP_942138.2:p.Thr248Pro
NM_001322224.3:c.196A>C	NP_001309153.1:p.Thr66Pro
NR_136231.3:n.1735A>C
NR_136232.3:n.964A>C
NR_136233.3:n.787A>C
NR_136234.3:n.821A>C
NR_136235.3:n.843A>C
NR_136236.3:n.1046A>C
NR_136237.3:n.1167A>C
NR_136238.3:n.908A>C