Canonical Allele Identifier: CA3523696

Gene: GLRA1

Linked Data

• dbSNP Id: rs762986466
• ExAC: 5:151239340 A / G
• gnomAD v2: 5-151239340-A-G
• gnomAD v4: 5-151859779-A-G
• MyVariant Identifiers: chr5:g.151239340A>G (hg19) ; chr5:g.151859779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859779A>G , CM000667.2:g.151859779A>G	GRCh38
NC_000005.9:g.151239340A>G , CM000667.1:g.151239340A>G	GRCh37
NC_000005.8:g.151219533A>G	NCBI36
NG_011764.1:g.70058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.476+6T>C MANE Select	ENSP00000274576.5:n.476+6T>C
ENST00000274576.8:c.476+6T>C	ENSP00000274576.4:n.476+6T>C
ENST00000455880.2:c.476+6T>C	ENSP00000411593.2:n.476+6T>C
ENST00000462581.6:c.*234+6T>C	ENSP00000430595.1:n.*234+6T>C
ENST00000471351.2:n.759+6T>C
NM_000171.3:c.476+6T>C	NP_000162.2:n.476+6T>C
NM_001146040.1:c.476+6T>C	NP_001139512.1:n.476+6T>C
NM_001292000.1:c.227+6T>C	NP_001278929.1:n.227+6T>C
XM_005268412.2:c.476+6T>C	XP_005268469.1:n.476+6T>C
XR_002956230.1:n.229+1886A>G
NM_000171.4:c.476+6T>C MANE Select	NP_000162.2:n.476+6T>C
NM_001146040.2:c.476+6T>C	NP_001139512.1:n.476+6T>C
NM_001292000.2:c.227+6T>C	NP_001278929.1:n.227+6T>C