Canonical Allele Identifier: CA130005980

Gene: GLRA1

Linked Data

• dbSNP Id: rs780429919
• gnomAD v3: 5-151822614-A-G
• gnomAD v4: 5-151822614-A-G
• MyVariant Identifiers: chr5:g.151202175A>G (hg19) ; chr5:g.151822614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822614A>G , CM000667.2:g.151822614A>G	GRCh38
NC_000005.9:g.151202175A>G , CM000667.1:g.151202175A>G	GRCh37
NC_000005.8:g.151182368A>G	NCBI36
NG_011764.1:g.107223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.*59T>C MANE Select	ENSP00000274576.5:n.*59T>C
ENST00000274576.8:c.*59T>C	ENSP00000274576.4:n.*59T>C
NM_000171.3:c.*59T>C	NP_000162.2:n.*59T>C
NM_001146040.1:c.*59T>C	NP_001139512.1:n.*59T>C
NM_001292000.1:c.*59T>C	NP_001278929.1:n.*59T>C
NM_000171.4:c.*59T>C MANE Select	NP_000162.2:n.*59T>C
NM_001146040.2:c.*59T>C	NP_001139512.1:n.*59T>C
NM_001292000.2:c.*59T>C	NP_001278929.1:n.*59T>C