Canonical Allele Identifier: CA3523587

Gene: GLRA1

Linked Data

• dbSNP Id: rs768145623
• ExAC: 5:151230938 C / T
• gnomAD v2: 5-151230938-C-T
• gnomAD v4: 5-151851377-C-T
• MyVariant Identifiers: chr5:g.151230938C>T (hg19) ; chr5:g.151851377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851377C>T , CM000667.2:g.151851377C>T	GRCh38
NC_000005.9:g.151230938C>T , CM000667.1:g.151230938C>T	GRCh37
NC_000005.8:g.151211131C>T	NCBI36
NG_011764.1:g.78460G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.912+13G>A MANE Select	ENSP00000274576.5:n.912+13G>A
ENST00000274576.8:c.912+13G>A	ENSP00000274576.4:n.912+13G>A
ENST00000455880.2:c.912+13G>A	ENSP00000411593.2:n.912+13G>A
ENST00000462581.6:c.*670+13G>A	ENSP00000430595.1:n.*670+13G>A
ENST00000471351.2:n.1195+13G>A
NM_000171.3:c.912+13G>A	NP_000162.2:n.912+13G>A
NM_001146040.1:c.912+13G>A	NP_001139512.1:n.912+13G>A
NM_001292000.1:c.663+13G>A	NP_001278929.1:n.663+13G>A
XM_005268412.2:c.912+13G>A	XP_005268469.1:n.912+13G>A
NM_000171.4:c.912+13G>A MANE Select	NP_000162.2:n.912+13G>A
NM_001146040.2:c.912+13G>A	NP_001139512.1:n.912+13G>A
NM_001292000.2:c.663+13G>A	NP_001278929.1:n.663+13G>A