Canonical Allele Identifier: CA130010081

Gene: GLRA1

Linked Data

• dbSNP Id: rs377190917
• gnomAD v4: 5-151828990-A-G
• MyVariant Identifiers: chr5:g.151208551A>G (hg19) ; chr5:g.151828990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828990A>G , CM000667.2:g.151828990A>G	GRCh38
NC_000005.9:g.151208551A>G , CM000667.1:g.151208551A>G	GRCh37
NC_000005.8:g.151188744A>G	NCBI36
NG_011764.1:g.100847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.990T>C MANE Select	ENSP00000274576.5:p.Ala330=
ENST00000274576.8:c.990T>C	ENSP00000274576.4:p.Ala330=
ENST00000455880.2:c.990T>C	ENSP00000411593.2:p.Ala330=
ENST00000462581.6:c.*748T>C	ENSP00000430595.1:n.*748T>C
NM_000171.3:c.990T>C	NP_000162.2:p.Ala330=
NM_001146040.1:c.990T>C	NP_001139512.1:p.Ala330=
NM_001292000.1:c.741T>C	NP_001278929.1:p.Ala247=
NM_000171.4:c.990T>C MANE Select	NP_000162.2:p.Ala330=
NM_001146040.2:c.990T>C	NP_001139512.1:p.Ala330=
NM_001292000.2:c.741T>C	NP_001278929.1:p.Ala247=