Canonical Allele Identifier: CA8730119

Gene: FAM20A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68600322C>A , CM000679.2:g.68600322C>A	GRCh38
NC_000017.10:g.66596463C>A , CM000679.1:g.66596463C>A	GRCh37
NC_000017.9:g.64108058C>A	NCBI36
NG_029809.1:g.5633G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017565.4:c.345G>T MANE Select	NP_060035.2:p.Ser115=
ENST00000592554.2:c.345G>T MANE Select	ENSP00000468308.1:p.Ser115=
NM_001243746.1:c.-296G>T	NP_001230675.1:n.-296G>T
NM_001243746.2:c.-296G>T	NP_001230675.1:n.-296G>T
NM_017565.3:c.345G>T	NP_060035.2:p.Ser115=
ENST00000590074.5:c.275G>T
ENST00000592554.1:c.345G>T	ENSP00000468308.1:p.Ser115=
XM_006721960.2:c.345G>T	XP_006722023.1:p.Ser115=
XM_011524917.1:c.345G>T	XP_011523219.1:p.Ser115=
XM_011524918.1:c.345G>T	XP_011523220.1:p.Ser115=
XM_011524918.3:c.345G>T	XP_011523220.1:p.Ser115=
XM_011524919.1:c.345G>T	XP_011523221.1:p.Ser115=
XM_011524920.1:c.345G>T	XP_011523222.1:p.Ser115=
XM_011524921.1:c.345G>T	XP_011523223.1:p.Ser115=
XM_017024781.2:c.345G>T	XP_016880270.1:p.Ser115=
XR_001752543.2:n.416G>T
XR_001752544.2:n.416G>T
XR_002958041.1:n.416G>T
XR_429905.1:n.473G>T
XR_429905.2:n.416G>T
XR_934486.1:n.473G>T
XR_934487.1:n.473G>T
XR_934487.3:n.416G>T
XR_934488.1:n.473G>T
XR_934489.1:n.473G>T
XR_934490.1:n.473G>T