Canonical Allele Identifier: CA370693123
Community Standard Title: NM_000025.3(ADRB3):c.847C>A (p.Leu283Met)
Gene: ADRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965623G>T , CM000670.2:g.37965623G>T GRCh38
NC_000008.10:g.37823141G>T , CM000670.1:g.37823141G>T GRCh37
NC_000008.9:g.37942298G>T NCBI36
NG_011936.1:g.6044C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.847C>A MANE Select NP_000016.1:p.Leu283Met
ENST00000345060.5:c.847C>A MANE Select ENSP00000343782.3:p.Leu283Met
NM_000025.2:c.847C>A NP_000016.1:p.Leu283Met
ENST00000345060.4:c.847C>A ENSP00000343782.3:p.Leu283Met
ENST00000520341.1:n.122C>A
ENST00000520341.2:n.975C>A
ENST00000614635.1:c.847C>A ENSP00000480325.1:p.Leu283Met
ENST00000647937.1:c.331C>A ENSP00000497740.1:p.Leu111Met