Canonical Allele Identifier: CA4687038
Gene: ADRA1A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26770511A>G , CM000670.2:g.26770511A>G GRCh38
NC_000008.10:g.26628028A>G , CM000670.1:g.26628028A>G GRCh37
NC_000008.9:g.26683945A>G NCBI36
NG_029395.1:g.99895T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380573.4:c.1039T>C MANE Select ENSP00000369947.3:p.Cys347Arg
ENST00000276393.8:c.1039T>C ENSP00000276393.4:p.Cys347Arg
ENST00000354550.4:c.1039T>C ENSP00000346557.4:p.Cys347Arg
ENST00000380573.3:c.1039T>C ENSP00000369947.3:p.Cys347Arg
ENST00000380582.7:c.1039T>C ENSP00000369956.3:p.Cys347Arg
ENST00000380586.5:c.1039T>C ENSP00000369960.1:p.Cys347Arg
ENST00000518621.1:n.252T>C
ENST00000519096.5:c.*83-21763T>C ENSP00000431073.1:n.*83-21763T>C
ENST00000519229.5:c.1039T>C ENSP00000430793.1:p.Cys347Arg
ENST00000521711.5:c.*83-13732T>C ENSP00000430414.1:n.*83-13732T>C
NM_000680.2:c.1039T>C NP_000671.2:p.Cys347Arg
NM_033302.2:c.1039T>C NP_150645.2:p.Cys347Arg
NM_033303.3:c.1039T>C NP_150646.3:p.Cys347Arg
NM_033304.2:c.1039T>C NP_150647.2:p.Cys347Arg
XM_005273414.3:c.1039T>C XP_005273471.1:p.Cys347Arg
XM_006716292.2:c.1039T>C XP_006716355.1:p.Cys347Arg
XM_006716293.2:c.1039T>C XP_006716356.1:p.Cys347Arg
NM_000680.3:c.1039T>C NP_000671.2:p.Cys347Arg
NM_001322502.1:c.884-13732T>C NP_001309431.1:n.884-13732T>C
NM_001322503.1:c.884-21763T>C NP_001309432.1:n.884-21763T>C
NM_033302.3:c.1039T>C NP_150645.2:p.Cys347Arg
NM_033303.4:c.1039T>C NP_150646.3:p.Cys347Arg
NM_033304.3:c.1039T>C NP_150647.2:p.Cys347Arg
NR_136343.1:n.1744-21763T>C
XM_006716292.3:c.1039T>C XP_006716355.1:p.Cys347Arg
XM_006716293.4:c.1039T>C XP_006716356.1:p.Cys347Arg
XM_017013094.1:c.1039T>C XP_016868583.1:p.Cys347Arg
XM_017013095.1:c.1039T>C XP_016868584.1:p.Cys347Arg
NM_000680.4:c.1039T>C MANE Select NP_000671.2:p.Cys347Arg