Canonical Allele Identifier: CA2165847748
Community Standard Title: NM_000814.6(GABRB3):c.240+6438G=
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26765964C= , CM000677.2:g.26765964C= GRCh38
NC_000015.9:g.27011111C= , CM000677.1:g.27011111C= GRCh37
NC_000015.8:g.24562204C= NCBI36
NG_012836.1:g.12817G=

Transcript Alleles

HGVS Amino-acid Change
NM_000814.6:c.240+6438G= MANE Select NP_000805.1:n.240+6438G=
ENST00000311550.10:c.240+6438G= MANE Select ENSP00000308725.5:n.240+6438G=
NM_000814.5:c.240+6438G= NP_000805.1:n.240+6438G=
NM_001278631.1:c.-112+6438G= NP_001265560.1:n.-112+6438G=
NM_001278631.2:c.-112+6438G= NP_001265560.1:n.-112+6438G=
NM_021912.4:c.240+6438G= NP_068712.1:n.240+6438G=
NM_021912.5:c.240+6438G= NP_068712.1:n.240+6438G=
ENST00000299267.8:c.240+6438G= ENSP00000299267.4:n.240+6438G=
ENST00000299267.9:c.240+6438G= ENSP00000299267.4:n.240+6438G=
ENST00000311550.9:c.240+6438G= ENSP00000308725.5:n.240+6438G=
ENST00000541819.6:c.408+6438G= ENSP00000442408.2:n.408+6438G=
ENST00000545868.4:c.-16+1188G= ENSP00000439169.1:n.-16+1188G=
ENST00000554556.5:c.240+6438G= ENSP00000451077.1:n.240+6438G=
ENST00000555632.5:c.240+6438G= ENSP00000452041.1:n.240+6438G=
ENST00000557641.5:n.612+6438G=
ENST00000622697.4:c.-112+6438G= ENSP00000481004.1:n.-112+6438G=
ENST00000636466.1:c.-16+6035G= ENSP00000489768.1:n.-16+6035G=
ENST00000638099.1:c.141+6438G= ENSP00000490678.1:n.141+6438G=
XR_002957720.1:n.4799+1360G=