Canonical Allele Identifier: CA2690731244

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447547-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447547C>G , CM000671.2:g.93447547C>G	GRCh38
NC_000009.11:g.96209829C>G , CM000671.1:g.96209829C>G	GRCh37
NC_000009.10:g.95249650C>G	NCBI36
NG_054727.1:g.11055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*64G>C MANE Select	ENSP00000364561.5:n.*64G>C
ENST00000649557.1:c.*64G>C	ENSP00000496904.1:n.*64G>C
ENST00000650398.1:n.858G>C
ENST00000375412.9:c.*64G>C	ENSP00000364561.5:n.*64G>C
ENST00000423591.5:c.*64G>C	ENSP00000414298.1:n.*64G>C
ENST00000428152.1:n.551G>C
ENST00000476484.5:c.*233G>C	ENSP00000429212.1:n.*233G>C
ENST00000479094.5:n.852G>C
ENST00000483056.5:n.657G>C
ENST00000483149.6:n.790G>C
ENST00000520403.1:n.832G>C
ENST00000520470.5:n.911G>C
ENST00000523407.1:n.713G>C
NM_198841.2:c.*64G>C	NP_942138.2:n.*64G>C
XM_005251736.2:c.922G>C	XP_005251793.1:n.922G>C
NM_001322224.2:c.*64G>C	NP_001309153.1:n.*64G>C
NM_198841.3:c.*64G>C	NP_942138.2:n.*64G>C
NR_136229.2:n.1134G>C
NR_136230.2:n.1255G>C
NR_136231.2:n.1848G>C
NR_136232.2:n.1060G>C
NR_136233.2:n.883G>C
NR_136234.2:n.917G>C
NR_136235.2:n.939G>C
NR_136236.2:n.1142G>C
NR_136237.2:n.1263G>C
NR_136238.2:n.1004G>C
NM_198841.4:c.*64G>C MANE Select	NP_942138.2:n.*64G>C
NM_001322224.3:c.*64G>C	NP_001309153.1:n.*64G>C
NR_136231.3:n.1828G>C
NR_136232.3:n.1057G>C
NR_136233.3:n.880G>C
NR_136234.3:n.914G>C
NR_136235.3:n.936G>C
NR_136236.3:n.1139G>C
NR_136237.3:n.1260G>C
NR_136238.3:n.1001G>C