Canonical Allele Identifier: CA2284957083
Community Standard Title: NM_182978.4(GNAL):c.694G= (p.Glu232=)
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11824987G= , CM000680.2:g.11824987G= GRCh38
NC_000018.9:g.11824986G= , CM000680.1:g.11824986G= GRCh37
NC_000018.8:g.11814986G= NCBI36
NG_033866.1:g.140973G=

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.694G= MANE Select NP_892023.1:p.Glu232=
ENST00000334049.11:c.694G= MANE Select ENSP00000334051.5:p.Glu232=
NM_001369387.1:c.463G= MANE Plus Clinical NP_001356316.1:p.Glu155=
ENST00000423027.8:c.463G= MANE Plus Clinical ENSP00000408489.2:p.Glu155=
NM_001142339.2:c.463G= NP_001135811.1:p.Glu155=
NM_001142339.3:c.463G= NP_001135811.1:p.Glu155=
NM_001261443.1:c.463G= NP_001248372.1:p.Glu155=
NM_001261443.2:c.463G= NP_001248372.1:p.Glu155=
NM_182978.3:c.694G= NP_892023.1:p.Glu232=
ENST00000269162.9:c.463G= ENSP00000269162.4:p.Glu155=
ENST00000334049.10:c.694G= ENSP00000334051.5:p.Glu232=
ENST00000423027.7:c.463G= ENSP00000408489.2:p.Glu155=
ENST00000535121.5:c.463G= ENSP00000439023.1:p.Glu155=
ENST00000585642.5:c.280G= ENSP00000467345.1:p.Glu94=
ENST00000590228.1:c.175G= ENSP00000467709.1:p.Glu59=
ENST00000590972.1:n.287G=
XM_006722323.2:c.463G= XP_006722386.1:p.Glu155=
XM_006722324.1:c.694G= XP_006722387.1:p.Glu232=
XM_006722324.3:c.694G= XP_006722387.1:p.Glu232=
XM_011525654.1:c.463G= XP_011523956.1:p.Glu155=
XM_024451164.1:c.463G= XP_024306932.1:p.Glu155=