Canonical Allele Identifier: CA361847947

Gene: GLRA1

Linked Data

• dbSNP Id: rs760494525
• gnomAD v2: 5-151271919-A-G
• gnomAD v4: 5-151892358-A-G
• MyVariant Identifiers: chr5:g.151271919A>G (hg19) ; chr5:g.151892358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151892358A>G , CM000667.2:g.151892358A>G	GRCh38
NC_000005.9:g.151271919A>G , CM000667.1:g.151271919A>G	GRCh37
NC_000005.8:g.151252112A>G	NCBI36
NG_011764.1:g.37479T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.137T>C MANE Select	ENSP00000274576.5:p.Met46Thr
ENST00000274576.8:c.137T>C	ENSP00000274576.4:p.Met46Thr
ENST00000455880.2:c.137T>C	ENSP00000411593.2:p.Met46Thr
ENST00000462581.6:c.57-5570T>C	ENSP00000430595.1:n.57-5570T>C
ENST00000471351.2:n.420T>C
NM_000171.3:c.137T>C	NP_000162.2:p.Met46Thr
NM_001146040.1:c.137T>C	NP_001139512.1:p.Met46Thr
NM_001292000.1:c.-65-5570T>C	NP_001278929.1:n.-65-5570T>C
XM_005268412.2:c.137T>C	XP_005268469.1:p.Met46Thr
XR_002956230.1:n.3262A>G
NM_000171.4:c.137T>C MANE Select	NP_000162.2:p.Met46Thr
NM_001146040.2:c.137T>C	NP_001139512.1:p.Met46Thr
NM_001292000.2:c.-65-5570T>C	NP_001278929.1:n.-65-5570T>C