Canonical Allele Identifier: CA2165806343
Community Standard Title: NM_000814.6(GABRB3):c.240+44463A=
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26727939T= , CM000677.2:g.26727939T= GRCh38
NC_000015.9:g.26973086T= , CM000677.1:g.26973086T= GRCh37
NC_000015.8:g.24524179T= NCBI36
NG_012836.1:g.50842A=

Transcript Alleles

HGVS Amino-acid Change
NM_000814.6:c.240+44463A= MANE Select NP_000805.1:n.240+44463A=
ENST00000311550.10:c.240+44463A= MANE Select ENSP00000308725.5:n.240+44463A=
NM_000814.5:c.240+44463A= NP_000805.1:n.240+44463A=
NM_001278631.1:c.-112+44463A= NP_001265560.1:n.-112+44463A=
NM_001278631.2:c.-112+44463A= NP_001265560.1:n.-112+44463A=
NM_021912.4:c.240+44463A= NP_068712.1:n.240+44463A=
NM_021912.5:c.240+44463A= NP_068712.1:n.240+44463A=
ENST00000299267.8:c.240+44463A= ENSP00000299267.4:n.240+44463A=
ENST00000299267.9:c.240+44463A= ENSP00000299267.4:n.240+44463A=
ENST00000311550.9:c.240+44463A= ENSP00000308725.5:n.240+44463A=
ENST00000541819.6:c.408+44463A= ENSP00000442408.2:n.408+44463A=
ENST00000545868.4:c.-16+39213A= ENSP00000439169.1:n.-16+39213A=
ENST00000554556.5:c.240+44463A= ENSP00000451077.1:n.240+44463A=
ENST00000555632.5:c.240+44463A= ENSP00000452041.1:n.240+44463A=
ENST00000622697.4:c.-112+44463A= ENSP00000481004.1:n.-112+44463A=
ENST00000636466.1:c.-16+44060A= ENSP00000489768.1:n.-16+44060A=
ENST00000638099.1:c.141+44463A= ENSP00000490678.1:n.141+44463A=