Canonical Allele Identifier: CA7565520

Gene: GNB5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52124517C>T , CM000677.2:g.52124517C>T	GRCh38
NC_000015.9:g.52416714C>T , CM000677.1:g.52416714C>T	GRCh37
NC_000015.8:g.50204006C>T	NCBI36
NG_052868.1:g.71852G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016194.4:c.1132G>A MANE Select	NP_057278.2:p.Asp378Asn
ENST00000261837.12:c.1132G>A MANE Select	ENSP00000261837.7:p.Asp378Asn
NM_001379343.1:c.850G>A	NP_001366272.1:p.Asp284Asn
NM_006578.3:c.1006G>A	NP_006569.1:p.Asp336Asn
NM_006578.4:c.1006G>A	NP_006569.1:p.Asp336Asn
NM_016194.3:c.1132G>A	NP_057278.2:p.Asp378Asn
ENST00000261837.11:c.1132G>A	ENSP00000261837.7:p.Asp378Asn
ENST00000358784.11:c.1006G>A	ENSP00000351635.7:p.Asp336Asn
ENST00000396335.8:c.796G>A	ENSP00000379626.4:p.Asp266Asn
ENST00000557936.5:n.820G>A
ENST00000558519.5:c.629G>A	ENSP00000453339.1:n.629G>A
ENST00000559348.5:n.1613G>A
ENST00000560085.1:n.959+647G>A
XM_011521162.1:c.1006G>A	XP_011519464.1:p.Asp336Asn
XM_011521162.3:c.1006G>A	XP_011519464.1:p.Asp336Asn
XM_011521163.1:c.850G>A	XP_011519465.1:p.Asp284Asn
XM_011521163.3:c.850G>A	XP_011519465.1:p.Asp284Asn
XM_017021867.2:c.583G>A	XP_016877356.1:p.Asp195Asn
XR_001751060.2:n.1084G>A