Canonical Allele Identifier: CA2284975228
Community Standard Title: NM_182978.4(GNAL):c.822A= (p.Thr274=)
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11864577A= , CM000680.2:g.11864577A= GRCh38
NC_000018.9:g.11864576A= , CM000680.1:g.11864576A= GRCh37
NC_000018.8:g.11854576A= NCBI36
NG_033866.1:g.180563A=

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.822A= MANE Select NP_892023.1:p.Thr274=
ENST00000334049.11:c.822A= MANE Select ENSP00000334051.5:p.Thr274=
NM_001369387.1:c.591A= MANE Plus Clinical NP_001356316.1:p.Thr197=
ENST00000423027.8:c.591A= MANE Plus Clinical ENSP00000408489.2:p.Thr197=
NM_001142339.2:c.591A= NP_001135811.1:p.Thr197=
NM_001142339.3:c.591A= NP_001135811.1:p.Thr197=
NM_001261443.1:c.591A= NP_001248372.1:p.Thr197=
NM_001261443.2:c.591A= NP_001248372.1:p.Thr197=
NM_001261444.1:c.-31A= NP_001248373.1:n.-31A=
NM_001261444.2:c.-31A= NP_001248373.1:n.-31A=
NM_182978.3:c.822A= NP_892023.1:p.Thr274=
ENST00000269162.9:c.591A= ENSP00000269162.4:p.Thr197=
ENST00000334049.10:c.822A= ENSP00000334051.5:p.Thr274=
ENST00000423027.7:c.591A= ENSP00000408489.2:p.Thr197=
ENST00000535121.5:c.591A= ENSP00000439023.1:p.Thr197=
ENST00000585642.5:c.408A= ENSP00000467345.1:p.Thr136=
ENST00000590228.1:c.303A= ENSP00000467709.1:p.Thr101=
ENST00000602628.1:c.-31A= ENSP00000473600.1:n.-31A=
XM_006722323.2:c.591A= XP_006722386.1:p.Thr197=
XM_011525654.1:c.591A= XP_011523956.1:p.Thr197=
XM_024451164.1:c.591A= XP_024306932.1:p.Thr197=