Canonical Allele Identifier: CA383671635
Gene: GNB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843004A>T , CM000674.2:g.6843004A>T GRCh38
NC_000012.11:g.6952168A>T , CM000674.1:g.6952168A>T GRCh37
NC_000012.10:g.6822429A>T NCBI36
NG_009100.1:g.7794A>T
NG_009100.2:g.7794A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.131A>T MANE Select ENSP00000229264.3:p.Gln44Leu
ENST00000229264.7:c.131A>T ENSP00000229264.3:p.Gln44Leu
ENST00000435982.6:c.131A>T ENSP00000414734.2:p.Gln44Leu
ENST00000537035.1:c.131A>T ENSP00000445967.1:p.Gln44Leu
ENST00000539127.5:c.*151A>T ENSP00000444325.1:n.*151A>T
ENST00000540458.5:n.1482A>T
ENST00000541257.5:c.131A>T ENSP00000442002.1:p.Gln44Leu
ENST00000541978.5:c.131A>T ENSP00000439753.2:p.Gln44Leu
NM_001297571.1:c.131A>T NP_001284500.1:p.Gln44Leu
NM_002075.3:c.131A>T NP_002066.1:p.Gln44Leu
XM_011520953.1:c.131A>T XP_011519255.1:p.Gln44Leu
XM_011520954.1:c.131A>T XP_011519256.1:p.Gln44Leu
XM_011520953.3:c.131A>T XP_011519255.1:p.Gln44Leu
NM_001297571.2:c.131A>T NP_001284500.1:p.Gln44Leu
NM_002075.4:c.131A>T MANE Select NP_002066.1:p.Gln44Leu