Canonical Allele Identifier: CA358972343

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186621075A>C , CM000666.2:g.186621075A>C	GRCh38
NC_000004.11:g.187542229A>C , CM000666.1:g.187542229A>C	GRCh37
NC_000004.10:g.187779223A>C	NCBI36
NG_046994.1:g.110841T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.5511T>G MANE Select	NP_005236.2:p.Tyr1837Ter
ENST00000441802.7:c.5511T>G MANE Select	ENSP00000406229.2:p.Tyr1837Ter
NM_005245.3:c.5511T>G	NP_005236.2:p.Tyr1837Ter
ENST00000441802.6:c.5511T>G	ENSP00000406229.2:p.Tyr1837Ter
ENST00000614102.4:c.5517T>G	ENSP00000479573.1:p.Tyr1839Ter
XM_005262834.2:c.5511T>G	XP_005262891.1:p.Tyr1837Ter
XM_005262834.3:c.5511T>G	XP_005262891.1:p.Tyr1837Ter
XM_005262835.1:c.5511T>G	XP_005262892.1:p.Tyr1837Ter
XM_005262835.2:c.5511T>G	XP_005262892.1:p.Tyr1837Ter
XM_006714139.2:c.5511T>G	XP_006714202.1:p.Tyr1837Ter
XM_006714139.3:c.5511T>G	XP_006714202.1:p.Tyr1837Ter