Canonical Allele Identifier: CA374064329

Gene: FAM120AOS

Linked Data

• MyVariant Identifiers: chr9:g.96209921G>C (hg19) ; chr9:g.93447639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447639G>C , CM000671.2:g.93447639G>C	GRCh38
NC_000009.11:g.96209921G>C , CM000671.1:g.96209921G>C	GRCh37
NC_000009.10:g.95249742G>C	NCBI36
NG_054727.1:g.10963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.743C>G MANE Select	ENSP00000364561.5:p.Thr248Arg
ENST00000649557.1:c.197C>G	ENSP00000496904.1:p.Thr66Arg
ENST00000650398.1:n.766C>G
ENST00000375412.9:c.743C>G	ENSP00000364561.5:p.Thr248Arg
ENST00000423591.5:c.197C>G	ENSP00000414298.1:p.Thr66Arg
ENST00000428152.1:n.459C>G
ENST00000428378.1:c.194C>G	ENSP00000416978.1:p.Thr65Arg
ENST00000476484.5:c.*141C>G	ENSP00000429212.1:n.*141C>G
ENST00000479094.5:n.760C>G
ENST00000483056.5:n.565C>G
ENST00000483149.6:n.698C>G
ENST00000520403.1:n.740C>G
ENST00000520470.5:n.819C>G
ENST00000523407.1:n.621C>G
NM_198841.2:c.743C>G	NP_942138.2:p.Thr248Arg
XM_005251736.2:c.830C>G	XP_005251793.1:p.Thr277Arg
NM_001322224.2:c.197C>G	NP_001309153.1:p.Thr66Arg
NM_198841.3:c.743C>G	NP_942138.2:p.Thr248Arg
NR_136229.2:n.1042C>G
NR_136230.2:n.1163C>G
NR_136231.2:n.1756C>G
NR_136232.2:n.968C>G
NR_136233.2:n.791C>G
NR_136234.2:n.825C>G
NR_136235.2:n.847C>G
NR_136236.2:n.1050C>G
NR_136237.2:n.1171C>G
NR_136238.2:n.912C>G
NM_198841.4:c.743C>G MANE Select	NP_942138.2:p.Thr248Arg
NM_001322224.3:c.197C>G	NP_001309153.1:p.Thr66Arg
NR_136231.3:n.1736C>G
NR_136232.3:n.965C>G
NR_136233.3:n.788C>G
NR_136234.3:n.822C>G
NR_136235.3:n.844C>G
NR_136236.3:n.1047C>G
NR_136237.3:n.1168C>G
NR_136238.3:n.909C>G