Canonical Allele Identifier: CA392482768

Gene: GNB5

Linked Data

• dbSNP Id: rs1270620554
• gnomAD v2: 15-52446169-T-C
• gnomAD v3: 15-52153972-T-C
• gnomAD v4: 15-52153972-T-C
• MyVariant Identifiers: chr15:g.52446169T>C (hg19) ; chr15:g.52153972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52153972T>C , CM000677.2:g.52153972T>C	GRCh38
NC_000015.9:g.52446169T>C , CM000677.1:g.52446169T>C	GRCh37
NC_000015.8:g.50233461T>C	NCBI36
NG_052868.1:g.42397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261837.12:c.343A>G MANE Select	ENSP00000261837.7:p.Lys115Glu
ENST00000261837.11:c.343A>G	ENSP00000261837.7:p.Lys115Glu
ENST00000358784.11:c.217A>G	ENSP00000351635.7:p.Lys73Glu
ENST00000396335.8:c.217A>G	ENSP00000379626.4:p.Lys73Glu
ENST00000560075.1:n.374A>G
ENST00000560116.1:c.217A>G	ENSP00000453176.1:p.Lys73Glu
ENST00000561313.5:c.217A>G	ENSP00000454185.1:p.Lys73Glu
NM_006578.3:c.217A>G	NP_006569.1:p.Lys73Glu
NM_016194.3:c.343A>G	NP_057278.2:p.Lys115Glu
XM_011521162.1:c.217A>G	XP_011519464.1:p.Lys73Glu
XM_011521163.1:c.61A>G	XP_011519465.1:p.Lys21Glu
XM_011521162.3:c.217A>G	XP_011519464.1:p.Lys73Glu
XM_011521163.3:c.61A>G	XP_011519465.1:p.Lys21Glu
XR_001751060.2:n.295A>G
NM_006578.4:c.217A>G	NP_006569.1:p.Lys73Glu
NM_016194.4:c.343A>G MANE Select	NP_057278.2:p.Lys115Glu
NM_001379343.1:c.61A>G	NP_001366272.1:p.Lys21Glu