Canonical Allele Identifier: CA374064349

Gene: FAM120AOS

Linked Data

• MyVariant Identifiers: chr9:g.96209930T>G (hg19) ; chr9:g.93447648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447648T>G , CM000671.2:g.93447648T>G	GRCh38
NC_000009.11:g.96209930T>G , CM000671.1:g.96209930T>G	GRCh37
NC_000009.10:g.95249751T>G	NCBI36
NG_054727.1:g.10954A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375412.11:c.734A>C MANE Select	ENSP00000364561.5:p.Lys245Thr
ENST00000649557.1:c.188A>C	ENSP00000496904.1:p.Lys63Thr
ENST00000650398.1:n.757A>C
ENST00000375412.9:c.734A>C	ENSP00000364561.5:p.Lys245Thr
ENST00000423591.5:c.188A>C	ENSP00000414298.1:p.Lys63Thr
ENST00000428152.1:n.450A>C
ENST00000428378.1:c.185A>C	ENSP00000416978.1:p.Lys62Thr
ENST00000476484.5:c.*132A>C	ENSP00000429212.1:n.*132A>C
ENST00000479094.5:n.751A>C
ENST00000483056.5:n.556A>C
ENST00000483149.6:n.689A>C
ENST00000520403.1:n.731A>C
ENST00000520470.5:n.810A>C
ENST00000523407.1:n.612A>C
NM_198841.2:c.734A>C	NP_942138.2:p.Lys245Thr
XM_005251736.2:c.821A>C	XP_005251793.1:p.Lys274Thr
NM_001322224.2:c.188A>C	NP_001309153.1:p.Lys63Thr
NM_198841.3:c.734A>C	NP_942138.2:p.Lys245Thr
NR_136229.2:n.1033A>C
NR_136230.2:n.1154A>C
NR_136231.2:n.1747A>C
NR_136232.2:n.959A>C
NR_136233.2:n.782A>C
NR_136234.2:n.816A>C
NR_136235.2:n.838A>C
NR_136236.2:n.1041A>C
NR_136237.2:n.1162A>C
NR_136238.2:n.903A>C
NM_198841.4:c.734A>C MANE Select	NP_942138.2:p.Lys245Thr
NM_001322224.3:c.188A>C	NP_001309153.1:p.Lys63Thr
NR_136231.3:n.1727A>C
NR_136232.3:n.956A>C
NR_136233.3:n.779A>C
NR_136234.3:n.813A>C
NR_136235.3:n.835A>C
NR_136236.3:n.1038A>C
NR_136237.3:n.1159A>C
NR_136238.3:n.900A>C