Canonical Allele Identifier: CA7565882

Gene: GNB5

Linked Data

• ClinVar Variation Id: 517015
• ClinVar RCV Id: RCV000605519
• dbSNP Id: rs6493537
• ExAC: 15:52446200 G / A
• gnomAD v2: 15-52446200-G-A
• gnomAD v3: 15-52154003-G-A
• gnomAD v4: 15-52154003-G-A
• MyVariant Identifiers: chr15:g.52446200G>A (hg19) ; chr15:g.52154003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52154003G>A , CM000677.2:g.52154003G>A	GRCh38
NC_000015.9:g.52446200G>A , CM000677.1:g.52446200G>A	GRCh37
NC_000015.8:g.50233492G>A	NCBI36
NG_052868.1:g.42366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261837.12:c.312C>T MANE Select	ENSP00000261837.7:p.His104=
ENST00000261837.11:c.312C>T	ENSP00000261837.7:p.His104=
ENST00000358784.11:c.186C>T	ENSP00000351635.7:p.His62=
ENST00000396335.8:c.186C>T	ENSP00000379626.4:p.His62=
ENST00000560075.1:n.343C>T
ENST00000560116.1:c.186C>T	ENSP00000453176.1:p.His62=
ENST00000561313.5:c.186C>T	ENSP00000454185.1:p.His62=
NM_006578.3:c.186C>T	NP_006569.1:p.His62=
NM_016194.3:c.312C>T	NP_057278.2:p.His104=
XM_011521162.1:c.186C>T	XP_011519464.1:p.His62=
XM_011521163.1:c.30C>T	XP_011519465.1:p.His10=
XM_011521162.3:c.186C>T	XP_011519464.1:p.His62=
XM_011521163.3:c.30C>T	XP_011519465.1:p.His10=
XR_001751060.2:n.264C>T
NM_006578.4:c.186C>T	NP_006569.1:p.His62=
NM_016194.4:c.312C>T MANE Select	NP_057278.2:p.His104=
NM_001379343.1:c.30C>T	NP_001366272.1:p.His10=