Canonical Allele Identifier: CA1082970090

Gene: GLRA1

Linked Data

• dbSNP Id: rs1763185483
• gnomAD v3: 5-151823111-T-C
• gnomAD v4: 5-151823111-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151823111T>C , CM000667.2:g.151823111T>C	GRCh38
NC_000005.9:g.151202672T>C , CM000667.1:g.151202672T>C	GRCh37
NC_000005.8:g.151182865T>C	NCBI36
NG_011764.1:g.106726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1060-148A>G MANE Select	ENSP00000274576.5:n.1060-148A>G
ENST00000274576.8:c.1060-148A>G	ENSP00000274576.4:n.1060-148A>G
ENST00000455880.2:c.1060-124A>G	ENSP00000411593.2:n.1060-124A>G
ENST00000462581.6:c.*818-148A>G	ENSP00000430595.1:n.*818-148A>G
NM_000171.3:c.1060-148A>G	NP_000162.2:n.1060-148A>G
NM_001146040.1:c.1060-124A>G	NP_001139512.1:n.1060-124A>G
NM_001292000.1:c.811-148A>G	NP_001278929.1:n.811-148A>G
NM_000171.4:c.1060-148A>G MANE Select	NP_000162.2:n.1060-148A>G
NM_001146040.2:c.1060-124A>G	NP_001139512.1:n.1060-124A>G
NM_001292000.2:c.811-148A>G	NP_001278929.1:n.811-148A>G