Canonical Allele Identifier: CA3523743
Community Standard Title: NM_000171.4(GLRA1):c.199G>A (p.Val67Met)
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151886774C>T , CM000667.2:g.151886774C>T GRCh38
NC_000005.9:g.151266335C>T , CM000667.1:g.151266335C>T GRCh37
NC_000005.8:g.151246528C>T NCBI36
NG_011764.1:g.43063G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000171.4:c.199G>A MANE Select NP_000162.2:p.Val67Met
ENST00000274576.9:c.199G>A MANE Select ENSP00000274576.5:p.Val67Met
NM_000171.3:c.199G>A NP_000162.2:p.Val67Met
NM_001146040.1:c.199G>A NP_001139512.1:p.Val67Met
NM_001146040.2:c.199G>A NP_001139512.1:p.Val67Met
NM_001292000.1:c.-51G>A NP_001278929.1:n.-51G>A
NM_001292000.2:c.-51G>A NP_001278929.1:n.-51G>A
ENST00000274576.8:c.199G>A ENSP00000274576.4:p.Val67Met
ENST00000455880.2:c.199G>A ENSP00000411593.2:p.Val67Met
ENST00000462581.6:c.71G>A ENSP00000430595.1:p.Arg24His
ENST00000471351.2:n.482G>A
XM_005268412.2:c.199G>A XP_005268469.1:p.Val67Met
XR_002956230.1:n.230-2552C>T