Canonical Allele Identifier: CA447224645
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151231029A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851468A>G , CM000667.2:g.151851468A>G GRCh38
NC_000005.9:g.151231029A>G , CM000667.1:g.151231029A>G GRCh37
NC_000005.8:g.151211222A>G NCBI36
NG_011764.1:g.78369T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.834T>C MANE Select ENSP00000274576.5:p.Pro278=
ENST00000274576.8:c.834T>C ENSP00000274576.4:p.Pro278=
ENST00000455880.2:c.834T>C ENSP00000411593.2:p.Pro278=
ENST00000462581.6:c.*592T>C ENSP00000430595.1:n.*592T>C
ENST00000471351.2:n.1117T>C
NM_000171.3:c.834T>C NP_000162.2:p.Pro278=
NM_001146040.1:c.834T>C NP_001139512.1:p.Pro278=
NM_001292000.1:c.585T>C NP_001278929.1:p.Pro195=
XM_005268412.2:c.834T>C XP_005268469.1:p.Pro278=
NM_000171.4:c.834T>C MANE Select NP_000162.2:p.Pro278=
NM_001146040.2:c.834T>C NP_001139512.1:p.Pro278=
NM_001292000.2:c.585T>C NP_001278929.1:p.Pro195=