Canonical Allele Identifier: CA366513212

Gene: FAM120B

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.170318498G>A , CM000668.2:g.170318498G>A	GRCh38
NC_000006.11:g.170627586G>A , CM000668.1:g.170627586G>A	GRCh37
NC_000006.10:g.170469511G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032448.3:c.1108G>A MANE Select	NP_115824.1:p.Asp370Asn
ENST00000476287.4:c.1108G>A MANE Select	ENSP00000417970.1:p.Asp370Asn
NM_001286379.1:c.1144G>A	NP_001273308.1:p.Asp382Asn
NM_001286379.2:c.1144G>A	NP_001273308.1:p.Asp382Asn
NM_001286380.1:c.1177G>A	NP_001273309.1:p.Asp393Asn
NM_001286380.2:c.1177G>A	NP_001273309.1:p.Asp393Asn
NM_001286381.1:c.-90+11656G>A	NP_001273310.1:n.-90+11656G>A
NM_001286381.2:c.-90+11656G>A	NP_001273310.1:n.-90+11656G>A
NM_032448.2:c.1108G>A	NP_115824.1:p.Asp370Asn
ENST00000476287.3:c.1108G>A	ENSP00000417970.1:p.Asp370Asn
ENST00000537664.5:c.1177G>A	ENSP00000440125.1:p.Asp393Asn
ENST00000625626.1:c.-90+11656G>A	ENSP00000485793.1:n.-90+11656G>A
ENST00000630384.2:c.1144G>A	ENSP00000485745.1:p.Asp382Asn
XM_006715579.2:c.1108G>A	XP_006715642.1:p.Asp370Asn
XM_011536185.1:c.1108G>A	XP_011534487.1:p.Asp370Asn
XM_011536185.3:c.1108G>A	XP_011534487.1:p.Asp370Asn
XM_017011358.2:c.1108G>A	XP_016866847.1:p.Asp370Asn
XM_017011359.2:c.1108G>A	XP_016866848.1:p.Asp370Asn
XM_017011360.2:c.1108G>A	XP_016866849.1:p.Asp370Asn
XM_024446569.1:c.1108G>A	XP_024302337.1:p.Asp370Asn
XM_024446570.1:c.1108G>A	XP_024302338.1:p.Asp370Asn
XR_001743679.2:n.1225G>A
XR_001743681.2:n.1225G>A
XR_001743682.2:n.959G>A
XR_002956306.1:n.1225G>A
XR_002956307.1:n.1225G>A
XR_002956308.1:n.1224G>A
XR_002956309.1:n.1225G>A