Canonical Allele Identifier: CA14557110
Community Standard Title: NM_182978.4(GNAL):c.377-857C>T
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11751996C>T , CM000680.2:g.11751996C>T GRCh38
NC_000018.9:g.11751995C>T , CM000680.1:g.11751995C>T GRCh37
NC_000018.8:g.11741995C>T NCBI36
NG_033866.1:g.67982C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.377-857C>T MANE Select NP_892023.1:n.377-857C>T
ENST00000334049.11:c.377-857C>T MANE Select ENSP00000334051.5:n.377-857C>T
NM_001142339.2:c.-103+290C>T NP_001135811.1:n.-103+290C>T
NM_001142339.3:c.-103+290C>T NP_001135811.1:n.-103+290C>T
NM_001261443.1:c.-102-336C>T NP_001248372.1:n.-102-336C>T
NM_001261443.2:c.-102-336C>T NP_001248372.1:n.-102-336C>T
NM_182978.3:c.377-857C>T NP_892023.1:n.377-857C>T
ENST00000269162.9:c.-103+290C>T ENSP00000269162.4:n.-103+290C>T
ENST00000334049.10:c.377-857C>T ENSP00000334051.5:n.377-857C>T
ENST00000535121.5:c.-102-336C>T ENSP00000439023.1:n.-102-336C>T
XM_006722324.1:c.377-857C>T XP_006722387.1:n.377-857C>T
XM_006722324.3:c.377-857C>T XP_006722387.1:n.377-857C>T
XM_011525654.1:c.-106+290C>T XP_011523956.1:n.-106+290C>T
XM_024451164.1:c.-438C>T XP_024306932.1:n.-438C>T