Canonical Allele Identifier: CA401928455

Gene: GNAL

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881128T>G , CM000680.2:g.11881128T>G	GRCh38
NC_000018.9:g.11881127T>G , CM000680.1:g.11881127T>G	GRCh37
NC_000018.8:g.11871127T>G	NCBI36
NG_033866.1:g.197114T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182978.4:c.1370T>G MANE Select	NP_892023.1:p.Leu457Arg
ENST00000334049.11:c.1370T>G MANE Select	ENSP00000334051.5:p.Leu457Arg
NM_001369387.1:c.1139T>G MANE Plus Clinical	NP_001356316.1:p.Leu380Arg
ENST00000423027.8:c.1139T>G MANE Plus Clinical	ENSP00000408489.2:p.Leu380Arg
NM_001142339.2:c.1139T>G	NP_001135811.1:p.Leu380Arg
NM_001142339.3:c.1139T>G	NP_001135811.1:p.Leu380Arg
NM_001261443.1:c.1139T>G	NP_001248372.1:p.Leu380Arg
NM_001261443.2:c.1139T>G	NP_001248372.1:p.Leu380Arg
NM_001261444.1:c.518T>G	NP_001248373.1:p.Leu173Arg
NM_001261444.2:c.518T>G	NP_001248373.1:p.Leu173Arg
NM_182978.3:c.1370T>G	NP_892023.1:p.Leu457Arg
ENST00000269162.9:c.1139T>G	ENSP00000269162.4:p.Leu380Arg
ENST00000334049.10:c.1370T>G	ENSP00000334051.5:p.Leu457Arg
ENST00000423027.7:c.1139T>G	ENSP00000408489.2:p.Leu380Arg
ENST00000535121.5:c.1139T>G	ENSP00000439023.1:p.Leu380Arg
ENST00000602628.1:c.518T>G	ENSP00000473600.1:p.Leu173Arg
XM_006722323.2:c.1139T>G	XP_006722386.1:p.Leu380Arg
XM_011525654.1:c.1139T>G	XP_011523956.1:p.Leu380Arg
XM_024451164.1:c.1139T>G	XP_024306932.1:p.Leu380Arg