Canonical Allele Identifier: CA415061003

Gene: GABRE

Linked Data

• dbSNP Id: rs1139916
• MyVariant Identifiers: chrX:g.151138179A>G (hg19) ; chrX:g.151969707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.151969707A>G , CM000685.2:g.151969707A>G	GRCh38
NC_000023.10:g.151138179A>G , CM000685.1:g.151138179A>G	GRCh37
NC_000023.9:g.150888835A>G	NCBI36
NG_012511.1:g.9973T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370328.4:c.304T>C MANE Select	ENSP00000359353.3:p.Ser102Pro
ENST00000370328.3:c.304T>C	ENSP00000359353.3:p.Ser102Pro
ENST00000441219.5:c.*350T>C	ENSP00000389384.1:n.*350T>C
ENST00000465405.1:n.398T>C
ENST00000474932.1:n.30T>C
NM_004961.3:c.304T>C	NP_004952.2:p.Ser102Pro
XM_006724813.2:c.304T>C	XP_006724876.2:p.Ser102Pro
XM_011531135.1:c.-36T>C	XP_011529437.1:n.-36T>C
XM_011531136.1:c.-36T>C	XP_011529438.1:n.-36T>C
XM_011531137.1:c.304T>C	XP_011529439.1:p.Ser102Pro
XM_011531138.1:c.304T>C	XP_011529440.1:p.Ser102Pro
XM_011531139.1:c.304T>C	XP_011529441.1:p.Ser102Pro
XM_017029387.2:c.-36T>C	XP_016884876.1:n.-36T>C
XM_017029389.2:c.-36T>C	XP_016884878.1:n.-36T>C
XM_024452360.1:c.-36T>C	XP_024308128.1:n.-36T>C
NM_004961.4:c.304T>C MANE Select	NP_004952.2:p.Ser102Pro