Canonical Allele Identifier: CA130011718

Gene: GLRA1

Linked Data

• dbSNP Id: rs760494525
• MyVariant Identifiers: chr5:g.151271919A>T (hg19) ; chr5:g.151892358A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.137T>A MANE Select	ENSP00000274576.5:p.Met46Lys
ENST00000274576.8:c.137T>A	ENSP00000274576.4:p.Met46Lys
ENST00000455880.2:c.137T>A	ENSP00000411593.2:p.Met46Lys
ENST00000462581.6:c.57-5570T>A	ENSP00000430595.1:n.57-5570T>A
ENST00000471351.2:n.420T>A
NM_000171.3:c.137T>A	NP_000162.2:p.Met46Lys
NM_001146040.1:c.137T>A	NP_001139512.1:p.Met46Lys
NM_001292000.1:c.-65-5570T>A	NP_001278929.1:n.-65-5570T>A
XM_005268412.2:c.137T>A	XP_005268469.1:p.Met46Lys
XR_002956230.1:n.3262A>T
NM_000171.4:c.137T>A MANE Select	NP_000162.2:p.Met46Lys
NM_001146040.2:c.137T>A	NP_001139512.1:p.Met46Lys
NM_001292000.2:c.-65-5570T>A	NP_001278929.1:n.-65-5570T>A