Canonical Allele Identifier: CA2284926857
Community Standard Title: NM_182978.4(GNAL):c.624+5488C=
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11759433C= , CM000680.2:g.11759433C= GRCh38
NC_000018.9:g.11759432C= , CM000680.1:g.11759432C= GRCh37
NC_000018.8:g.11749432C= NCBI36
NG_033866.1:g.75419C=

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.624+5488C= MANE Select NP_892023.1:n.624+5488C=
ENST00000334049.11:c.624+5488C= MANE Select ENSP00000334051.5:n.624+5488C=
NM_001369387.1:c.393+5488C= MANE Plus Clinical NP_001356316.1:n.393+5488C=
ENST00000423027.8:c.393+5488C= MANE Plus Clinical ENSP00000408489.2:n.393+5488C=
NM_001142339.2:c.393+5488C= NP_001135811.1:n.393+5488C=
NM_001142339.3:c.393+5488C= NP_001135811.1:n.393+5488C=
NM_001261443.1:c.393+5488C= NP_001248372.1:n.393+5488C=
NM_001261443.2:c.393+5488C= NP_001248372.1:n.393+5488C=
NM_182978.3:c.624+5488C= NP_892023.1:n.624+5488C=
ENST00000269162.9:c.393+5488C= ENSP00000269162.4:n.393+5488C=
ENST00000334049.10:c.624+5488C= ENSP00000334051.5:n.624+5488C=
ENST00000423027.7:c.393+5488C= ENSP00000408489.2:n.393+5488C=
ENST00000535121.5:c.393+5488C= ENSP00000439023.1:n.393+5488C=
ENST00000585642.5:c.210+5488C= ENSP00000467345.1:n.210+5488C=
ENST00000590228.1:c.105+5488C= ENSP00000467709.1:n.105+5488C=
ENST00000590972.1:n.217+5488C=
XM_006722323.2:c.393+5488C= XP_006722386.1:n.393+5488C=
XM_006722324.1:c.624+5488C= XP_006722387.1:n.624+5488C=
XM_006722324.3:c.624+5488C= XP_006722387.1:n.624+5488C=
XM_011525654.1:c.393+5488C= XP_011523956.1:n.393+5488C=
XM_024451164.1:c.393+5488C= XP_024306932.1:n.393+5488C=