Canonical Allele Identifier: CA3523494

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822857T>G , CM000667.2:g.151822857T>G	GRCh38
NC_000005.9:g.151202418T>G , CM000667.1:g.151202418T>G	GRCh37
NC_000005.8:g.151182611T>G	NCBI36
NG_011764.1:g.106980A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.1166A>C MANE Select	NP_000162.2:p.Asn389Thr
ENST00000274576.9:c.1166A>C MANE Select	ENSP00000274576.5:p.Asn389Thr
NM_000171.3:c.1166A>C	NP_000162.2:p.Asn389Thr
NM_001146040.1:c.1190A>C	NP_001139512.1:p.Asn397Thr
NM_001146040.2:c.1190A>C	NP_001139512.1:p.Asn397Thr
NM_001292000.1:c.917A>C	NP_001278929.1:p.Asn306Thr
NM_001292000.2:c.917A>C	NP_001278929.1:p.Asn306Thr
ENST00000274576.8:c.1166A>C	ENSP00000274576.4:p.Asn389Thr
ENST00000455880.2:c.1190A>C	ENSP00000411593.2:p.Asn397Thr
ENST00000462581.6:c.*924A>C	ENSP00000430595.1:n.*924A>C