Canonical Allele Identifier: CA2284957074
Community Standard Title: NM_182978.4(GNAL):c.640G= (p.Val214=)
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11824933G= , CM000680.2:g.11824933G= GRCh38
NC_000018.9:g.11824932G= , CM000680.1:g.11824932G= GRCh37
NC_000018.8:g.11814932G= NCBI36
NG_033866.1:g.140919G=

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.640G= MANE Select NP_892023.1:p.Val214=
ENST00000334049.11:c.640G= MANE Select ENSP00000334051.5:p.Val214=
NM_001369387.1:c.409G= MANE Plus Clinical NP_001356316.1:p.Val137=
ENST00000423027.8:c.409G= MANE Plus Clinical ENSP00000408489.2:p.Val137=
NM_001142339.2:c.409G= NP_001135811.1:p.Val137=
NM_001142339.3:c.409G= NP_001135811.1:p.Val137=
NM_001261443.1:c.409G= NP_001248372.1:p.Val137=
NM_001261443.2:c.409G= NP_001248372.1:p.Val137=
NM_182978.3:c.640G= NP_892023.1:p.Val214=
ENST00000269162.9:c.409G= ENSP00000269162.4:p.Val137=
ENST00000334049.10:c.640G= ENSP00000334051.5:p.Val214=
ENST00000423027.7:c.409G= ENSP00000408489.2:p.Val137=
ENST00000535121.5:c.409G= ENSP00000439023.1:p.Val137=
ENST00000585642.5:c.226G= ENSP00000467345.1:p.Val76=
ENST00000590228.1:c.121G= ENSP00000467709.1:p.Val41=
ENST00000590972.1:n.233G=
XM_006722323.2:c.409G= XP_006722386.1:p.Val137=
XM_006722324.1:c.640G= XP_006722387.1:p.Val214=
XM_006722324.3:c.640G= XP_006722387.1:p.Val214=
XM_011525654.1:c.409G= XP_011523956.1:p.Val137=
XM_024451164.1:c.409G= XP_024306932.1:p.Val137=