Canonical Allele Identifier: CA1864666276

Gene: FAM120AOS

Linked Data

• dbSNP Id: rs1588738990
• gnomAD v4: 9-93447542-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447542C>T , CM000671.2:g.93447542C>T	GRCh38
NC_000009.11:g.96209824C>T , CM000671.1:g.96209824C>T	GRCh37
NC_000009.10:g.95249645C>T	NCBI36
NG_054727.1:g.11060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*69G>A MANE Select	ENSP00000364561.5:n.*69G>A
ENST00000649557.1:c.*69G>A	ENSP00000496904.1:n.*69G>A
ENST00000650398.1:n.863G>A
ENST00000375412.9:c.*69G>A	ENSP00000364561.5:n.*69G>A
ENST00000423591.5:c.*69G>A	ENSP00000414298.1:n.*69G>A
ENST00000428152.1:n.556G>A
ENST00000476484.5:c.*238G>A	ENSP00000429212.1:n.*238G>A
ENST00000479094.5:n.857G>A
ENST00000483056.5:n.662G>A
ENST00000483149.6:n.795G>A
ENST00000520403.1:n.837G>A
ENST00000520470.5:n.916G>A
ENST00000523407.1:n.718G>A
NM_198841.2:c.*69G>A	NP_942138.2:n.*69G>A
XM_005251736.2:c.927G>A	XP_005251793.1:n.927G>A
NM_001322224.2:c.*69G>A	NP_001309153.1:n.*69G>A
NM_198841.3:c.*69G>A	NP_942138.2:n.*69G>A
NR_136229.2:n.1139G>A
NR_136230.2:n.1260G>A
NR_136231.2:n.1853G>A
NR_136232.2:n.1065G>A
NR_136233.2:n.888G>A
NR_136234.2:n.922G>A
NR_136235.2:n.944G>A
NR_136236.2:n.1147G>A
NR_136237.2:n.1268G>A
NR_136238.2:n.1009G>A
NM_198841.4:c.*69G>A MANE Select	NP_942138.2:n.*69G>A
NM_001322224.3:c.*69G>A	NP_001309153.1:n.*69G>A
NR_136231.3:n.1833G>A
NR_136232.3:n.1062G>A
NR_136233.3:n.885G>A
NR_136234.3:n.919G>A
NR_136235.3:n.941G>A
NR_136236.3:n.1144G>A
NR_136237.3:n.1265G>A
NR_136238.3:n.1006G>A