Canonical Allele Identifier: CA2014342545
Gene: EMG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974362C= , CM000674.2:g.6974362C= GRCh38
NC_000012.11:g.7083524C= , CM000674.1:g.7083524C= GRCh37
NC_000012.10:g.6953785C= NCBI36
NG_021408.1:g.8582C=
NG_021408.2:g.8582C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599672.6:c.192C= MANE Select ENSP00000470560.1:p.Leu64=
ENST00000261406.7:c.174C= ENSP00000476966.2:p.Leu58=
ENST00000539196.2:c.55C=
ENST00000599672.5:c.192C= ENSP00000470560.1:p.Leu64=
ENST00000607161.5:c.195C= ENSP00000480420.1:p.Leu65=
ENST00000611981.1:n.203C=
ENST00000620255.1:n.181C=
NM_006331.7:c.192C= NP_006322.4:p.Leu64=
XM_011520907.1:c.192C= XP_011519209.1:p.Leu64=
NM_001320049.1:c.192C= NP_001306978.1:p.Leu64=
NR_135131.1:n.335C=
NM_006331.8:c.192C= MANE Select NP_006322.4:p.Leu64=
NM_001320049.2:c.192C= NP_001306978.1:p.Leu64=
NR_135131.2:n.203C=