Canonical Allele Identifier: CA2581050295

Gene: FEZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125454069C>G , CM000673.2:g.125454069C>G	GRCh38
NC_000011.9:g.125323965C>G , CM000673.1:g.125323965C>G	GRCh37
NC_000011.8:g.124829175C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005103.5:c.1020+61G>C MANE Select	NP_005094.1:n.1020+61G>C
ENST00000278919.8:c.1020+61G>C MANE Select	ENSP00000278919.3:n.1020+61G>C
NM_005103.4:c.1020+61G>C	NP_005094.1:n.1020+61G>C
ENST00000278919.7:c.1020+61G>C	ENSP00000278919.3:n.1020+61G>C
ENST00000524427.5:n.533+61G>C
ENST00000527350.5:n.417+61G>C
ENST00000528863.5:n.228+61G>C
ENST00000648911.1:c.1020+61G>C	ENSP00000497070.1:n.1020+61G>C
XM_005271734.2:c.1020+61G>C	XP_005271791.1:n.1020+61G>C
XM_005271735.2:c.1020+61G>C	XP_005271792.1:n.1020+61G>C