Canonical Allele Identifier: CA383180657

Gene: FEZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125481576A>C , CM000673.2:g.125481576A>C	GRCh38
NC_000011.9:g.125351472A>C , CM000673.1:g.125351472A>C	GRCh37
NC_000011.8:g.124856682A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005103.5:c.369T>G MANE Select	NP_005094.1:p.Asp123Glu
ENST00000278919.8:c.369T>G MANE Select	ENSP00000278919.3:p.Asp123Glu
NM_005103.4:c.369T>G	NP_005094.1:p.Asp123Glu
ENST00000278919.7:c.369T>G	ENSP00000278919.3:p.Asp123Glu
ENST00000392709.8:n.611T>G
ENST00000527350.5:n.22T>G
ENST00000532981.1:n.512T>G
ENST00000533294.1:n.181T>G
ENST00000577924.1:c.58T>G
ENST00000648911.1:c.369T>G	ENSP00000497070.1:p.Asp123Glu
XM_005271734.2:c.369T>G	XP_005271791.1:p.Asp123Glu
XM_005271735.2:c.369T>G	XP_005271792.1:p.Asp123Glu
XM_011543071.1:c.369T>G	XP_011541373.1:p.Asp123Glu