Canonical Allele Identifier: CA2712461
Community Standard Title: NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)
Gene: GNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179413519T>A , CM000665.2:g.179413519T>A GRCh38
NC_000003.11:g.179131307T>A , CM000665.1:g.179131307T>A GRCh37
NC_000003.10:g.180614001T>A NCBI36
NG_033163.1:g.43065A>T

Transcript Alleles

HGVS Amino-acid Change
NM_021629.4:c.592A>T MANE Select NP_067642.1:p.Thr198Ser
ENST00000232564.8:c.592A>T MANE Select ENSP00000232564.3:p.Thr198Ser
NM_021629.3:c.592A>T NP_067642.1:p.Thr198Ser
ENST00000232564.7:c.592A>T ENSP00000232564.3:p.Thr198Ser
ENST00000465153.1:n.111A>T
ENST00000465153.2:c.592A>T ENSP00000502010.1:p.Thr198Ser
ENST00000466899.5:c.359A>T
ENST00000466899.6:c.592A>T ENSP00000420066.2:p.Thr198Ser
ENST00000468623.5:c.592A>T ENSP00000419693.1:p.Thr198Ser
ENST00000468623.6:c.553A>T ENSP00000419693.2:p.Thr185Ser
ENST00000674713.1:c.484A>T ENSP00000502144.1:p.Thr162Ser
ENST00000674862.1:c.592A>T ENSP00000502628.1:p.Thr198Ser
ENST00000674927.1:c.592A>T ENSP00000501774.1:p.Thr198Ser
ENST00000675901.1:c.592A>T ENSP00000501992.1:p.Thr198Ser
ENST00000676128.1:c.592A>T ENSP00000501882.1:p.Thr198Ser
XM_005247692.1:c.592A>T XP_005247749.1:p.Thr198Ser
XM_005247692.2:c.592A>T XP_005247749.1:p.Thr198Ser
XM_006713721.1:c.592A>T XP_006713784.1:p.Thr198Ser
XM_006713721.2:c.592A>T XP_006713784.1:p.Thr198Ser
XM_011513061.1:c.592A>T XP_011511363.1:p.Thr198Ser