Canonical Allele Identifier: CA358986318
Community Standard Title: NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)
Gene: FAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186707160C>T , CM000666.2:g.186707160C>T GRCh38
NC_000004.11:g.187628314C>T , CM000666.1:g.187628314C>T GRCh37
NC_000004.10:g.187865308C>T NCBI36
NG_046994.1:g.24756G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005245.4:c.2668G>A MANE Select NP_005236.2:p.Glu890Lys
ENST00000441802.7:c.2668G>A MANE Select ENSP00000406229.2:p.Glu890Lys
NM_005245.3:c.2668G>A NP_005236.2:p.Glu890Lys
ENST00000441802.6:c.2668G>A ENSP00000406229.2:p.Glu890Lys
ENST00000614102.4:c.2668G>A ENSP00000479573.1:p.Glu890Lys
XM_005262834.2:c.2668G>A XP_005262891.1:p.Glu890Lys
XM_005262834.3:c.2668G>A XP_005262891.1:p.Glu890Lys
XM_005262835.1:c.2668G>A XP_005262892.1:p.Glu890Lys
XM_005262835.2:c.2668G>A XP_005262892.1:p.Glu890Lys
XM_006714139.2:c.2668G>A XP_006714202.1:p.Glu890Lys
XM_006714139.3:c.2668G>A XP_006714202.1:p.Glu890Lys