Canonical Allele Identifier: CA3175035

Gene: EXOC3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.457921C>T , CM000667.2:g.457921C>T	GRCh38
NC_000005.9:g.458036C>T , CM000667.1:g.458036C>T	GRCh37
NC_000005.8:g.511036C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007277.5:c.1186C>T MANE Select	NP_009208.2:p.Arg396Trp
ENST00000512944.6:c.1186C>T MANE Select	ENSP00000425587.1:p.Arg396Trp
NM_007277.4:c.1186C>T	NP_009208.2:p.Arg396Trp
ENST00000315013.9:c.1186C>T	ENSP00000323377.5:p.Arg396Trp
ENST00000503889.2:c.795C>T
ENST00000510028.1:n.916C>T
ENST00000512944.5:c.1186C>T	ENSP00000425587.1:p.Arg396Trp
ENST00000515601.6:c.1046+3870C>T	ENSP00000424404.1:n.1046+3870C>T
XM_011513948.1:c.1186C>T	XP_011512250.1:p.Arg396Trp
XM_011513949.1:c.1186C>T	XP_011512251.1:p.Arg396Trp
XM_011513950.1:c.1186C>T	XP_011512252.1:p.Arg396Trp
XM_011513951.1:c.1046+3870C>T	XP_011512253.1:n.1046+3870C>T