Canonical Allele Identifier: CA401928050

Gene: GNAL

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_182978.4:c.694G>T MANE Select	NP_892023.1:p.Glu232Ter
ENST00000334049.11:c.694G>T MANE Select	ENSP00000334051.5:p.Glu232Ter
NM_001369387.1:c.463G>T MANE Plus Clinical	NP_001356316.1:p.Glu155Ter
ENST00000423027.8:c.463G>T MANE Plus Clinical	ENSP00000408489.2:p.Glu155Ter
NM_001142339.2:c.463G>T	NP_001135811.1:p.Glu155Ter
NM_001142339.3:c.463G>T	NP_001135811.1:p.Glu155Ter
NM_001261443.1:c.463G>T	NP_001248372.1:p.Glu155Ter
NM_001261443.2:c.463G>T	NP_001248372.1:p.Glu155Ter
NM_182978.3:c.694G>T	NP_892023.1:p.Glu232Ter
ENST00000269162.9:c.463G>T	ENSP00000269162.4:p.Glu155Ter
ENST00000334049.10:c.694G>T	ENSP00000334051.5:p.Glu232Ter
ENST00000423027.7:c.463G>T	ENSP00000408489.2:p.Glu155Ter
ENST00000535121.5:c.463G>T	ENSP00000439023.1:p.Glu155Ter
ENST00000585642.5:c.280G>T	ENSP00000467345.1:p.Glu94Ter
ENST00000590228.1:c.175G>T	ENSP00000467709.1:p.Glu59Ter
ENST00000590972.1:n.287G>T
XM_006722323.2:c.463G>T	XP_006722386.1:p.Glu155Ter
XM_006722324.1:c.694G>T	XP_006722387.1:p.Glu232Ter
XM_006722324.3:c.694G>T	XP_006722387.1:p.Glu232Ter
XM_011525654.1:c.463G>T	XP_011523956.1:p.Glu155Ter
XM_024451164.1:c.463G>T	XP_024306932.1:p.Glu155Ter