Canonical Allele Identifier: CA447226795

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1161237
• ClinVar RCV Id: RCV001505636
• dbSNP Id: rs1217083281
• gnomAD v2: 5-151208605-G-A
• MyVariant Identifiers: chr5:g.151208605G>A (hg19) ; chr5:g.151829044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829044G>A , CM000667.2:g.151829044G>A	GRCh38
NC_000005.9:g.151208605G>A , CM000667.1:g.151208605G>A	GRCh37
NC_000005.8:g.151188798G>A	NCBI36
NG_011764.1:g.100793C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.936C>T MANE Select	ENSP00000274576.5:p.Asp312=
ENST00000274576.8:c.936C>T	ENSP00000274576.4:p.Asp312=
ENST00000455880.2:c.936C>T	ENSP00000411593.2:p.Asp312=
ENST00000462581.6:c.*694C>T	ENSP00000430595.1:n.*694C>T
NM_000171.3:c.936C>T	NP_000162.2:p.Asp312=
NM_001146040.1:c.936C>T	NP_001139512.1:p.Asp312=
NM_001292000.1:c.687C>T	NP_001278929.1:p.Asp229=
NM_000171.4:c.936C>T MANE Select	NP_000162.2:p.Asp312=
NM_001146040.2:c.936C>T	NP_001139512.1:p.Asp312=
NM_001292000.2:c.687C>T	NP_001278929.1:p.Asp229=