Canonical Allele Identifier: CA374064340

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447645-G-A
• MyVariant Identifiers: chr9:g.96209927G>A (hg19) ; chr9:g.93447645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447645G>A , CM000671.2:g.93447645G>A	GRCh38
NC_000009.11:g.96209927G>A , CM000671.1:g.96209927G>A	GRCh37
NC_000009.10:g.95249748G>A	NCBI36
NG_054727.1:g.10957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375412.11:c.737C>T MANE Select	ENSP00000364561.5:p.Pro246Leu
ENST00000649557.1:c.191C>T	ENSP00000496904.1:p.Pro64Leu
ENST00000650398.1:n.760C>T
ENST00000375412.9:c.737C>T	ENSP00000364561.5:p.Pro246Leu
ENST00000423591.5:c.191C>T	ENSP00000414298.1:p.Pro64Leu
ENST00000428152.1:n.453C>T
ENST00000428378.1:c.188C>T	ENSP00000416978.1:p.Pro63Leu
ENST00000476484.5:c.*135C>T	ENSP00000429212.1:n.*135C>T
ENST00000479094.5:n.754C>T
ENST00000483056.5:n.559C>T
ENST00000483149.6:n.692C>T
ENST00000520403.1:n.734C>T
ENST00000520470.5:n.813C>T
ENST00000523407.1:n.615C>T
NM_198841.2:c.737C>T	NP_942138.2:p.Pro246Leu
XM_005251736.2:c.824C>T	XP_005251793.1:p.Pro275Leu
NM_001322224.2:c.191C>T	NP_001309153.1:p.Pro64Leu
NM_198841.3:c.737C>T	NP_942138.2:p.Pro246Leu
NR_136229.2:n.1036C>T
NR_136230.2:n.1157C>T
NR_136231.2:n.1750C>T
NR_136232.2:n.962C>T
NR_136233.2:n.785C>T
NR_136234.2:n.819C>T
NR_136235.2:n.841C>T
NR_136236.2:n.1044C>T
NR_136237.2:n.1165C>T
NR_136238.2:n.906C>T
NM_198841.4:c.737C>T MANE Select	NP_942138.2:p.Pro246Leu
NM_001322224.3:c.191C>T	NP_001309153.1:p.Pro64Leu
NR_136231.3:n.1730C>T
NR_136232.3:n.959C>T
NR_136233.3:n.782C>T
NR_136234.3:n.816C>T
NR_136235.3:n.838C>T
NR_136236.3:n.1041C>T
NR_136237.3:n.1162C>T
NR_136238.3:n.903C>T