Canonical Allele Identifier: CA3523781

Gene: GLRA1

Linked Data

• dbSNP Id: rs187424144
• ExAC: 5:151272011 G / C
• gnomAD v2: 5-151272011-G-C
• gnomAD v4: 5-151892450-G-C
• MyVariant Identifiers: chr5:g.151272011G>C (hg19) ; chr5:g.151892450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151892450G>C , CM000667.2:g.151892450G>C	GRCh38
NC_000005.9:g.151272011G>C , CM000667.1:g.151272011G>C	GRCh37
NC_000005.8:g.151252204G>C	NCBI36
NG_011764.1:g.37387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.57-12C>G MANE Select	ENSP00000274576.5:n.57-12C>G
ENST00000274576.8:c.57-12C>G	ENSP00000274576.4:n.57-12C>G
ENST00000455880.2:c.57-12C>G	ENSP00000411593.2:n.57-12C>G
ENST00000462581.6:c.57-5662C>G	ENSP00000430595.1:n.57-5662C>G
ENST00000471351.2:n.340-12C>G
NM_000171.3:c.57-12C>G	NP_000162.2:n.57-12C>G
NM_001146040.1:c.57-12C>G	NP_001139512.1:n.57-12C>G
NM_001292000.1:c.-65-5662C>G	NP_001278929.1:n.-65-5662C>G
XM_005268412.2:c.57-12C>G	XP_005268469.1:n.57-12C>G
NM_000171.4:c.57-12C>G MANE Select	NP_000162.2:n.57-12C>G
NM_001146040.2:c.57-12C>G	NP_001139512.1:n.57-12C>G
NM_001292000.2:c.-65-5662C>G	NP_001278929.1:n.-65-5662C>G