Canonical Allele Identifier: CA392482793

Gene: GNB5

Linked Data

• dbSNP Id: rs2034154977
• gnomAD v3: 15-52153974-C-T
• gnomAD v4: 15-52153974-C-T
• MyVariant Identifiers: chr15:g.52446171C>T (hg19) ; chr15:g.52153974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52153974C>T , CM000677.2:g.52153974C>T	GRCh38
NC_000015.9:g.52446171C>T , CM000677.1:g.52446171C>T	GRCh37
NC_000015.8:g.50233463C>T	NCBI36
NG_052868.1:g.42395G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261837.12:c.341G>A MANE Select	ENSP00000261837.7:p.Cys114Tyr
ENST00000261837.11:c.341G>A	ENSP00000261837.7:p.Cys114Tyr
ENST00000358784.11:c.215G>A	ENSP00000351635.7:p.Cys72Tyr
ENST00000396335.8:c.215G>A	ENSP00000379626.4:p.Cys72Tyr
ENST00000560075.1:n.372G>A
ENST00000560116.1:c.215G>A	ENSP00000453176.1:p.Cys72Tyr
ENST00000561313.5:c.215G>A	ENSP00000454185.1:p.Cys72Tyr
NM_006578.3:c.215G>A	NP_006569.1:p.Cys72Tyr
NM_016194.3:c.341G>A	NP_057278.2:p.Cys114Tyr
XM_011521162.1:c.215G>A	XP_011519464.1:p.Cys72Tyr
XM_011521163.1:c.59G>A	XP_011519465.1:p.Cys20Tyr
XM_011521162.3:c.215G>A	XP_011519464.1:p.Cys72Tyr
XM_011521163.3:c.59G>A	XP_011519465.1:p.Cys20Tyr
XR_001751060.2:n.293G>A
NM_006578.4:c.215G>A	NP_006569.1:p.Cys72Tyr
NM_016194.4:c.341G>A MANE Select	NP_057278.2:p.Cys114Tyr
NM_001379343.1:c.59G>A	NP_001366272.1:p.Cys20Tyr