Canonical Allele Identifier: CA2284978722
Community Standard Title: NM_182978.4(GNAL):c.1109C= (p.Ser370=)
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11872345C= , CM000680.2:g.11872345C= GRCh38
NC_000018.9:g.11872344C= , CM000680.1:g.11872344C= GRCh37
NC_000018.8:g.11862344C= NCBI36
NG_033866.1:g.188331C=

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.1109C= MANE Select NP_892023.1:p.Ser370=
ENST00000334049.11:c.1109C= MANE Select ENSP00000334051.5:p.Ser370=
NM_001369387.1:c.878C= MANE Plus Clinical NP_001356316.1:p.Ser293=
ENST00000423027.8:c.878C= MANE Plus Clinical ENSP00000408489.2:p.Ser293=
NM_001142339.2:c.878C= NP_001135811.1:p.Ser293=
NM_001142339.3:c.878C= NP_001135811.1:p.Ser293=
NM_001261443.1:c.878C= NP_001248372.1:p.Ser293=
NM_001261443.2:c.878C= NP_001248372.1:p.Ser293=
NM_001261444.1:c.257C= NP_001248373.1:p.Ser86=
NM_001261444.2:c.257C= NP_001248373.1:p.Ser86=
NM_182978.3:c.1109C= NP_892023.1:p.Ser370=
ENST00000269162.9:c.878C= ENSP00000269162.4:p.Ser293=
ENST00000334049.10:c.1109C= ENSP00000334051.5:p.Ser370=
ENST00000423027.7:c.878C= ENSP00000408489.2:p.Ser293=
ENST00000535121.5:c.878C= ENSP00000439023.1:p.Ser293=
ENST00000586926.1:c.45C=
ENST00000602628.1:c.257C= ENSP00000473600.1:p.Ser86=
XM_006722323.2:c.878C= XP_006722386.1:p.Ser293=
XM_011525654.1:c.878C= XP_011523956.1:p.Ser293=
XM_024451164.1:c.878C= XP_024306932.1:p.Ser293=