Canonical Allele Identifier: CA14144557
Community Standard Title: NM_016194.4(GNB5):c.913-295C>A
Gene: GNB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52126339G>T , CM000677.2:g.52126339G>T GRCh38
NC_000015.9:g.52418536G>T , CM000677.1:g.52418536G>T GRCh37
NC_000015.8:g.50205828G>T NCBI36
NG_052868.1:g.70030C>A

Transcript Alleles

HGVS Amino-acid Change
NM_016194.4:c.913-295C>A MANE Select NP_057278.2:n.913-295C>A
ENST00000261837.12:c.913-295C>A MANE Select ENSP00000261837.7:n.913-295C>A
NM_001379343.1:c.631-295C>A NP_001366272.1:n.631-295C>A
NM_006578.3:c.787-295C>A NP_006569.1:n.787-295C>A
NM_006578.4:c.787-295C>A NP_006569.1:n.787-295C>A
NM_016194.3:c.913-295C>A NP_057278.2:n.913-295C>A
ENST00000261837.11:c.913-295C>A ENSP00000261837.7:n.913-295C>A
ENST00000358784.11:c.787-295C>A ENSP00000351635.7:n.787-295C>A
ENST00000396335.8:c.577-295C>A ENSP00000379626.4:n.577-295C>A
ENST00000557936.5:n.601-295C>A
ENST00000558519.5:c.410-295C>A ENSP00000453339.1:n.410-295C>A
ENST00000559348.5:n.1394-295C>A
ENST00000559541.1:n.377-295C>A
ENST00000560085.1:n.79-295C>A
XM_011521162.1:c.787-295C>A XP_011519464.1:n.787-295C>A
XM_011521162.3:c.787-295C>A XP_011519464.1:n.787-295C>A
XM_011521163.1:c.631-295C>A XP_011519465.1:n.631-295C>A
XM_011521163.3:c.631-295C>A XP_011519465.1:n.631-295C>A
XM_017021867.2:c.364-295C>A XP_016877356.1:n.364-295C>A
XR_001751060.2:n.865-295C>A