Canonical Allele Identifier: CA361851816

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1464682
• ClinVar RCV Id: RCV001998015
• dbSNP Id: rs867618642
• gnomAD v4: 5-151829038-C-G
• MyVariant Identifiers: chr5:g.151208599C>G (hg19) ; chr5:g.151829038C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829038C>G , CM000667.2:g.151829038C>G	GRCh38
NC_000005.9:g.151208599C>G , CM000667.1:g.151208599C>G	GRCh37
NC_000005.8:g.151188792C>G	NCBI36
NG_011764.1:g.100799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.942G>C MANE Select	ENSP00000274576.5:p.Trp314Cys
ENST00000274576.8:c.942G>C	ENSP00000274576.4:p.Trp314Cys
ENST00000455880.2:c.942G>C	ENSP00000411593.2:p.Trp314Cys
ENST00000462581.6:c.*700G>C	ENSP00000430595.1:n.*700G>C
NM_000171.3:c.942G>C	NP_000162.2:p.Trp314Cys
NM_001146040.1:c.942G>C	NP_001139512.1:p.Trp314Cys
NM_001292000.1:c.693G>C	NP_001278929.1:p.Trp231Cys
NM_000171.4:c.942G>C MANE Select	NP_000162.2:p.Trp314Cys
NM_001146040.2:c.942G>C	NP_001139512.1:p.Trp314Cys
NM_001292000.2:c.693G>C	NP_001278929.1:p.Trp231Cys