Canonical Allele Identifier: CA2694964921

Gene: GABRE

Linked Data

• gnomAD v4: X-151969624-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.151969624C>G , CM000685.2:g.151969624C>G	GRCh38
NC_000023.10:g.151138096C>G , CM000685.1:g.151138096C>G	GRCh37
NC_000023.9:g.150888752C>G	NCBI36
NG_012511.1:g.10056G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370328.4:c.342+45G>C MANE Select	ENSP00000359353.3:n.342+45G>C
ENST00000370328.3:c.342+45G>C	ENSP00000359353.3:n.342+45G>C
ENST00000441219.5:c.*388+45G>C	ENSP00000389384.1:n.*388+45G>C
ENST00000465405.1:n.481G>C
ENST00000474932.1:n.68+45G>C
NM_004961.3:c.342+45G>C	NP_004952.2:n.342+45G>C
XM_006724813.2:c.342+45G>C	XP_006724876.2:n.342+45G>C
XM_011531135.1:c.3+45G>C	XP_011529437.1:n.3+45G>C
XM_011531136.1:c.3+45G>C	XP_011529438.1:n.3+45G>C
XM_011531137.1:c.342+45G>C	XP_011529439.1:n.342+45G>C
XM_011531138.1:c.342+45G>C	XP_011529440.1:n.342+45G>C
XM_011531139.1:c.342+45G>C	XP_011529441.1:n.342+45G>C
XM_017029387.2:c.3+45G>C	XP_016884876.1:n.3+45G>C
XM_017029389.2:c.3+45G>C	XP_016884878.1:n.3+45G>C
XM_024452360.1:c.3+45G>C	XP_024308128.1:n.3+45G>C
NM_004961.4:c.342+45G>C MANE Select	NP_004952.2:n.342+45G>C