Canonical Allele Identifier: CA3023946

Gene: EMCN

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.100421321G>C , CM000666.2:g.100421321G>C	GRCh38
NC_000004.11:g.101342478G>C , CM000666.1:g.101342478G>C	GRCh37
NC_000004.10:g.101561501G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016242.4:c.625C>G MANE Select	NP_057326.2:p.Leu209Val
ENST00000296420.9:c.625C>G MANE Select	ENSP00000296420.4:p.Leu209Val
NM_001159694.1:c.586C>G	NP_001153166.1:p.Leu196Val
NM_001159694.2:c.586C>G	NP_001153166.1:p.Leu196Val
NM_016242.3:c.625C>G	NP_057326.2:p.Leu209Val
ENST00000296420.8:c.625C>G	ENSP00000296420.4:p.Leu209Val
ENST00000305864.7:c.416-4180C>G	ENSP00000304780.3:n.416-4180C>G
ENST00000502569.1:c.472C>G	ENSP00000427608.1:p.Leu158Val
ENST00000506300.5:c.197-10966C>G	ENSP00000426515.1:n.197-10966C>G
ENST00000511970.5:c.586C>G	ENSP00000422432.1:p.Leu196Val
XM_011532024.1:c.625C>G	XP_011530326.1:p.Leu209Val
XM_011532024.3:c.625C>G	XP_011530326.1:p.Leu209Val