Canonical Allele Identifier: CA370693738
Community Standard Title: NM_000025.3(ADRB3):c.742G>A (p.Glu248Lys)
Gene: ADRB3 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.742G>A MANE Select NP_000016.1:p.Glu248Lys
ENST00000345060.5:c.742G>A MANE Select ENSP00000343782.3:p.Glu248Lys
NM_000025.2:c.742G>A NP_000016.1:p.Glu248Lys
ENST00000345060.4:c.742G>A ENSP00000343782.3:p.Glu248Lys
ENST00000520341.1:n.17G>A
ENST00000520341.2:n.870G>A
ENST00000614635.1:c.742G>A ENSP00000480325.1:p.Glu248Lys
ENST00000647937.1:c.226G>A ENSP00000497740.1:p.Glu76Lys
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