Canonical Allele Identifier: CA447224529
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs121918411
MyVariant Identifiers: chr5:g.151230981C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851420C>T , CM000667.2:g.151851420C>T GRCh38
NC_000005.9:g.151230981C>T , CM000667.1:g.151230981C>T GRCh37
NC_000005.8:g.151211174C>T NCBI36
NG_011764.1:g.78417G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.882G>A MANE Select ENSP00000274576.5:p.Gln294=
ENST00000274576.8:c.882G>A ENSP00000274576.4:p.Gln294=
ENST00000455880.2:c.882G>A ENSP00000411593.2:p.Gln294=
ENST00000462581.6:c.*640G>A ENSP00000430595.1:n.*640G>A
ENST00000471351.2:n.1165G>A
NM_000171.3:c.882G>A NP_000162.2:p.Gln294=
NM_001146040.1:c.882G>A NP_001139512.1:p.Gln294=
NM_001292000.1:c.633G>A NP_001278929.1:p.Gln211=
XM_005268412.2:c.882G>A XP_005268469.1:p.Gln294=
NM_000171.4:c.882G>A MANE Select NP_000162.2:p.Gln294=
NM_001146040.2:c.882G>A NP_001139512.1:p.Gln294=
NM_001292000.2:c.633G>A NP_001278929.1:p.Gln211=