Canonical Allele Identifier: CA4714357
Community Standard Title: NM_000025.3(ADRB3):c.742G>C (p.Glu248Gln)
Gene: ADRB3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965728C>G , CM000670.2:g.37965728C>G GRCh38
NC_000008.10:g.37823246C>G , CM000670.1:g.37823246C>G GRCh37
NC_000008.9:g.37942403C>G NCBI36
NG_011936.1:g.5939G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.742G>C MANE Select NP_000016.1:p.Glu248Gln
ENST00000345060.5:c.742G>C MANE Select ENSP00000343782.3:p.Glu248Gln
NM_000025.2:c.742G>C NP_000016.1:p.Glu248Gln
ENST00000345060.4:c.742G>C ENSP00000343782.3:p.Glu248Gln
ENST00000520341.1:n.17G>C
ENST00000520341.2:n.870G>C
ENST00000614635.1:c.742G>C ENSP00000480325.1:p.Glu248Gln
ENST00000647937.1:c.226G>C ENSP00000497740.1:p.Glu76Gln
Search 100 bp 5'
Search 100 bp 3'