Canonical Allele Identifier: CA361849604

Gene: GLRA1

Linked Data

• dbSNP Id: rs1416379523
• gnomAD v2: 5-151202262-A-G
• gnomAD v4: 5-151822701-A-G
• MyVariant Identifiers: chr5:g.151202262A>G (hg19) ; chr5:g.151822701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822701A>G , CM000667.2:g.151822701A>G	GRCh38
NC_000005.9:g.151202262A>G , CM000667.1:g.151202262A>G	GRCh37
NC_000005.8:g.151182455A>G	NCBI36
NG_011764.1:g.107136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1322T>C MANE Select	ENSP00000274576.5:p.Val441Ala
ENST00000274576.8:c.1322T>C	ENSP00000274576.4:p.Val441Ala
ENST00000455880.2:c.1346T>C	ENSP00000411593.2:p.Val449Ala
ENST00000462581.6:c.*1080T>C	ENSP00000430595.1:n.*1080T>C
NM_000171.3:c.1322T>C	NP_000162.2:p.Val441Ala
NM_001146040.1:c.1346T>C	NP_001139512.1:p.Val449Ala
NM_001292000.1:c.1073T>C	NP_001278929.1:p.Val358Ala
NM_000171.4:c.1322T>C MANE Select	NP_000162.2:p.Val441Ala
NM_001146040.2:c.1346T>C	NP_001139512.1:p.Val449Ala
NM_001292000.2:c.1073T>C	NP_001278929.1:p.Val358Ala