Canonical Allele Identifier: CA374064345

Gene: FAM120AOS

Linked Data

• MyVariant Identifiers: chr9:g.96209929T>G (hg19) ; chr9:g.93447647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447647T>G , CM000671.2:g.93447647T>G	GRCh38
NC_000009.11:g.96209929T>G , CM000671.1:g.96209929T>G	GRCh37
NC_000009.10:g.95249750T>G	NCBI36
NG_054727.1:g.10955A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.735A>C MANE Select	ENSP00000364561.5:p.Lys245Asn
ENST00000649557.1:c.189A>C	ENSP00000496904.1:p.Lys63Asn
ENST00000650398.1:n.758A>C
ENST00000375412.9:c.735A>C	ENSP00000364561.5:p.Lys245Asn
ENST00000423591.5:c.189A>C	ENSP00000414298.1:p.Lys63Asn
ENST00000428152.1:n.451A>C
ENST00000428378.1:c.186A>C	ENSP00000416978.1:p.Lys62Asn
ENST00000476484.5:c.*133A>C	ENSP00000429212.1:n.*133A>C
ENST00000479094.5:n.752A>C
ENST00000483056.5:n.557A>C
ENST00000483149.6:n.690A>C
ENST00000520403.1:n.732A>C
ENST00000520470.5:n.811A>C
ENST00000523407.1:n.613A>C
NM_198841.2:c.735A>C	NP_942138.2:p.Lys245Asn
XM_005251736.2:c.822A>C	XP_005251793.1:p.Lys274Asn
NM_001322224.2:c.189A>C	NP_001309153.1:p.Lys63Asn
NM_198841.3:c.735A>C	NP_942138.2:p.Lys245Asn
NR_136229.2:n.1034A>C
NR_136230.2:n.1155A>C
NR_136231.2:n.1748A>C
NR_136232.2:n.960A>C
NR_136233.2:n.783A>C
NR_136234.2:n.817A>C
NR_136235.2:n.839A>C
NR_136236.2:n.1042A>C
NR_136237.2:n.1163A>C
NR_136238.2:n.904A>C
NM_198841.4:c.735A>C MANE Select	NP_942138.2:p.Lys245Asn
NM_001322224.3:c.189A>C	NP_001309153.1:p.Lys63Asn
NR_136231.3:n.1728A>C
NR_136232.3:n.957A>C
NR_136233.3:n.780A>C
NR_136234.3:n.814A>C
NR_136235.3:n.836A>C
NR_136236.3:n.1039A>C
NR_136237.3:n.1160A>C
NR_136238.3:n.901A>C