Canonical Allele Identifier: CA3523581

Gene: GLRA1

Linked Data

• dbSNP Id: rs769434078
• ExAC: 5:151230908 T / G
• gnomAD v2: 5-151230908-T-G
• gnomAD v4: 5-151851347-T-G
• MyVariant Identifiers: chr5:g.151230908T>G (hg19) ; chr5:g.151851347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851347T>G , CM000667.2:g.151851347T>G	GRCh38
NC_000005.9:g.151230908T>G , CM000667.1:g.151230908T>G	GRCh37
NC_000005.8:g.151211101T>G	NCBI36
NG_011764.1:g.78490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.912+43A>C MANE Select	ENSP00000274576.5:n.912+43A>C
ENST00000274576.8:c.912+43A>C	ENSP00000274576.4:n.912+43A>C
ENST00000455880.2:c.912+43A>C	ENSP00000411593.2:n.912+43A>C
ENST00000462581.6:c.*670+43A>C	ENSP00000430595.1:n.*670+43A>C
ENST00000471351.2:n.1195+43A>C
NM_000171.3:c.912+43A>C	NP_000162.2:n.912+43A>C
NM_001146040.1:c.912+43A>C	NP_001139512.1:n.912+43A>C
NM_001292000.1:c.663+43A>C	NP_001278929.1:n.663+43A>C
XM_005268412.2:c.912+43A>C	XP_005268469.1:n.912+43A>C
NM_000171.4:c.912+43A>C MANE Select	NP_000162.2:n.912+43A>C
NM_001146040.2:c.912+43A>C	NP_001139512.1:n.912+43A>C
NM_001292000.2:c.663+43A>C	NP_001278929.1:n.663+43A>C