Canonical Allele Identifier: CA442648516

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186595702C>T , CM000666.2:g.186595702C>T	GRCh38
NC_000004.11:g.187516856C>T , CM000666.1:g.187516856C>T	GRCh37
NC_000004.10:g.187753850C>T	NCBI36
NG_046994.1:g.136214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.13125G>A MANE Select	ENSP00000406229.2:p.Ser4375=
ENST00000441802.6:c.13125G>A	ENSP00000406229.2:p.Ser4375=
ENST00000500085.2:n.817G>A
ENST00000507105.1:c.427G>A
ENST00000509537.1:c.-5G>A	ENSP00000421003.1:n.-5G>A
ENST00000509927.1:c.99G>A	ENSP00000420869.1:p.Ser33=
ENST00000512772.5:c.427G>A
ENST00000614102.4:c.13131G>A	ENSP00000479573.1:p.Ser4377=
NM_005245.3:c.13125G>A	NP_005236.2:p.Ser4375=
XM_005262834.2:c.13125G>A	XP_005262891.1:p.Ser4375=
XM_005262835.1:c.13125G>A	XP_005262892.1:p.Ser4375=
XM_006714139.2:c.13125G>A	XP_006714202.1:p.Ser4375=
XM_005262834.3:c.13125G>A	XP_005262891.1:p.Ser4375=
XM_005262835.2:c.13125G>A	XP_005262892.1:p.Ser4375=
XM_006714139.3:c.13125G>A	XP_006714202.1:p.Ser4375=
NM_005245.4:c.13125G>A MANE Select	NP_005236.2:p.Ser4375=