Canonical Allele Identifier: CA175071347
Community Standard Title: NM_000025.3(ADRB3):c.740C>T (p.Pro247Leu)
Gene: ADRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965730G>A , CM000670.2:g.37965730G>A GRCh38
NC_000008.10:g.37823248G>A , CM000670.1:g.37823248G>A GRCh37
NC_000008.9:g.37942405G>A NCBI36
NG_011936.1:g.5937C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.740C>T MANE Select NP_000016.1:p.Pro247Leu
ENST00000345060.5:c.740C>T MANE Select ENSP00000343782.3:p.Pro247Leu
NM_000025.2:c.740C>T NP_000016.1:p.Pro247Leu
ENST00000345060.4:c.740C>T ENSP00000343782.3:p.Pro247Leu
ENST00000520341.1:n.15C>T
ENST00000520341.2:n.868C>T
ENST00000614635.1:c.740C>T ENSP00000480325.1:p.Pro247Leu
ENST00000647937.1:c.224C>T ENSP00000497740.1:p.Pro75Leu