Canonical Allele Identifier: CA447226810
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151208626C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151829065C>G , CM000667.2:g.151829065C>G GRCh38
NC_000005.9:g.151208626C>G , CM000667.1:g.151208626C>G GRCh37
NC_000005.8:g.151188819C>G NCBI36
NG_011764.1:g.100772G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.915G>C MANE Select ENSP00000274576.5:p.Val305=
ENST00000274576.8:c.915G>C ENSP00000274576.4:p.Val305=
ENST00000455880.2:c.915G>C ENSP00000411593.2:p.Val305=
ENST00000462581.6:c.*673G>C ENSP00000430595.1:n.*673G>C
NM_000171.3:c.915G>C NP_000162.2:p.Val305=
NM_001146040.1:c.915G>C NP_001139512.1:p.Val305=
NM_001292000.1:c.666G>C NP_001278929.1:p.Val222=
NM_000171.4:c.915G>C MANE Select NP_000162.2:p.Val305=
NM_001146040.2:c.915G>C NP_001139512.1:p.Val305=
NM_001292000.2:c.666G>C NP_001278929.1:p.Val222=