Canonical Allele Identifier: CA14748071
Gene: ADRA1D HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.4221394T>A
GRCh37 chr20:g.4202041T>A
gnomAD v2:
20:4202041 T / A
gnomAD v3:
20:4221394 T / A
gnomAD v4:
chr20-4221394-T-A
Joint Max Group AF 0.49903864 (SAS)
Genomes Max Group AF 0.49969037 (SAS)
Exomes Max Group AF 0.49769573 (SAS)
dbSNP:
2236554
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4221394T>A , CM000682.2:g.4221394T>A GRCh38
NC_000020.10:g.4202041T>A , CM000682.1:g.4202041T>A GRCh37
NC_000020.9:g.4150041T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379453.6:c.*129A>T MANE Select ENSP00000368766.4:n.*129A>T
ENST00000379453.5:c.*129A>T ENSP00000368766.4:n.*129A>T
NM_000678.3:c.*129A>T NP_000669.1:n.*129A>T
NM_000678.4:c.*129A>T MANE Select NP_000669.1:n.*129A>T
Search 100 bp 5'
Search 100 bp 3'