Canonical Allele Identifier: CA392483443

Gene: GNB5

Linked Data

• gnomAD v4: 15-52154027-C-G
• MyVariant Identifiers: chr15:g.52446224C>G (hg19) ; chr15:g.52154027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52154027C>G , CM000677.2:g.52154027C>G	GRCh38
NC_000015.9:g.52446224C>G , CM000677.1:g.52446224C>G	GRCh37
NC_000015.8:g.50233516C>G	NCBI36
NG_052868.1:g.42342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261837.12:c.288G>C MANE Select	ENSP00000261837.7:p.Lys96Asn
ENST00000261837.11:c.288G>C	ENSP00000261837.7:p.Lys96Asn
ENST00000358784.11:c.162G>C	ENSP00000351635.7:p.Lys54Asn
ENST00000396335.8:c.162G>C	ENSP00000379626.4:p.Lys54Asn
ENST00000560075.1:n.319G>C
ENST00000560116.1:c.162G>C	ENSP00000453176.1:p.Lys54Asn
ENST00000561313.5:c.162G>C	ENSP00000454185.1:p.Lys54Asn
NM_006578.3:c.162G>C	NP_006569.1:p.Lys54Asn
NM_016194.3:c.288G>C	NP_057278.2:p.Lys96Asn
XM_011521162.1:c.162G>C	XP_011519464.1:p.Lys54Asn
XM_011521163.1:c.6G>C	XP_011519465.1:p.Lys2Asn
XM_011521162.3:c.162G>C	XP_011519464.1:p.Lys54Asn
XM_011521163.3:c.6G>C	XP_011519465.1:p.Lys2Asn
XR_001751060.2:n.240G>C
NM_006578.4:c.162G>C	NP_006569.1:p.Lys54Asn
NM_016194.4:c.288G>C MANE Select	NP_057278.2:p.Lys96Asn
NM_001379343.1:c.6G>C	NP_001366272.1:p.Lys2Asn