Canonical Allele Identifier: CA10602651
Community Standard Title: NM_016194.4(GNB5):c.375+3A>G
Gene: GNB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52153937T>C , CM000677.2:g.52153937T>C GRCh38
NC_000015.9:g.52446134T>C , CM000677.1:g.52446134T>C GRCh37
NC_000015.8:g.50233426T>C NCBI36
NG_052868.1:g.42432A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016194.4:c.375+3A>G MANE Select NP_057278.2:n.375+3A>G
ENST00000261837.12:c.375+3A>G MANE Select ENSP00000261837.7:n.375+3A>G
NM_001379343.1:c.93+3A>G NP_001366272.1:n.93+3A>G
NM_006578.3:c.249+3A>G NP_006569.1:n.249+3A>G
NM_006578.4:c.249+3A>G NP_006569.1:n.249+3A>G
NM_016194.3:c.375+3A>G NP_057278.2:n.375+3A>G
ENST00000261837.11:c.375+3A>G ENSP00000261837.7:n.375+3A>G
ENST00000358784.11:c.249+3A>G ENSP00000351635.7:n.249+3A>G
ENST00000396335.8:c.249+3A>G ENSP00000379626.4:n.249+3A>G
ENST00000560075.1:n.406+3A>G
ENST00000560116.1:c.249+3A>G ENSP00000453176.1:n.249+3A>G
ENST00000561313.5:c.249+3A>G ENSP00000454185.1:n.249+3A>G
XM_011521162.1:c.249+3A>G XP_011519464.1:n.249+3A>G
XM_011521162.3:c.249+3A>G XP_011519464.1:n.249+3A>G
XM_011521163.1:c.93+3A>G XP_011519465.1:n.93+3A>G
XM_011521163.3:c.93+3A>G XP_011519465.1:n.93+3A>G
XR_001751060.2:n.327+3A>G