Canonical Allele Identifier: CA2690731245

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447548-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447548A>G , CM000671.2:g.93447548A>G	GRCh38
NC_000009.11:g.96209830A>G , CM000671.1:g.96209830A>G	GRCh37
NC_000009.10:g.95249651A>G	NCBI36
NG_054727.1:g.11054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.*63T>C MANE Select	ENSP00000364561.5:n.*63T>C
ENST00000649557.1:c.*63T>C	ENSP00000496904.1:n.*63T>C
ENST00000650398.1:n.857T>C
ENST00000375412.9:c.*63T>C	ENSP00000364561.5:n.*63T>C
ENST00000423591.5:c.*63T>C	ENSP00000414298.1:n.*63T>C
ENST00000428152.1:n.550T>C
ENST00000476484.5:c.*232T>C	ENSP00000429212.1:n.*232T>C
ENST00000479094.5:n.851T>C
ENST00000483056.5:n.656T>C
ENST00000483149.6:n.789T>C
ENST00000520403.1:n.831T>C
ENST00000520470.5:n.910T>C
ENST00000523407.1:n.712T>C
NM_198841.2:c.*63T>C	NP_942138.2:n.*63T>C
XM_005251736.2:c.921T>C	XP_005251793.1:n.921T>C
NM_001322224.2:c.*63T>C	NP_001309153.1:n.*63T>C
NM_198841.3:c.*63T>C	NP_942138.2:n.*63T>C
NR_136229.2:n.1133T>C
NR_136230.2:n.1254T>C
NR_136231.2:n.1847T>C
NR_136232.2:n.1059T>C
NR_136233.2:n.882T>C
NR_136234.2:n.916T>C
NR_136235.2:n.938T>C
NR_136236.2:n.1141T>C
NR_136237.2:n.1262T>C
NR_136238.2:n.1003T>C
NM_198841.4:c.*63T>C MANE Select	NP_942138.2:n.*63T>C
NM_001322224.3:c.*63T>C	NP_001309153.1:n.*63T>C
NR_136231.3:n.1827T>C
NR_136232.3:n.1056T>C
NR_136233.3:n.879T>C
NR_136234.3:n.913T>C
NR_136235.3:n.935T>C
NR_136236.3:n.1138T>C
NR_136237.3:n.1259T>C
NR_136238.3:n.1000T>C