Canonical Allele Identifier: CA175070601
Community Standard Title: NM_000025.3(ADRB3):c.1070G>A (p.Arg357His)
Gene: ADRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965400C>T , CM000670.2:g.37965400C>T GRCh38
NC_000008.10:g.37822918C>T , CM000670.1:g.37822918C>T GRCh37
NC_000008.9:g.37942075C>T NCBI36
NG_011936.1:g.6267G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.1070G>A MANE Select NP_000016.1:p.Arg357His
ENST00000345060.5:c.1070G>A MANE Select ENSP00000343782.3:p.Arg357His
NM_000025.2:c.1070G>A NP_000016.1:p.Arg357His
ENST00000345060.4:c.1070G>A ENSP00000343782.3:p.Arg357His
ENST00000520341.1:n.345G>A
ENST00000520341.2:n.1198G>A
ENST00000614635.1:c.1070G>A ENSP00000480325.1:p.Arg357His
ENST00000647937.1:c.554G>A ENSP00000497740.1:p.Arg185His