Canonical Allele Identifier: CA447226588
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1763173510
MyVariant Identifiers: chr5:g.151202384G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822823G>A , CM000667.2:g.151822823G>A GRCh38
NC_000005.9:g.151202384G>A , CM000667.1:g.151202384G>A GRCh37
NC_000005.8:g.151182577G>A NCBI36
NG_011764.1:g.107014C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.1200C>T MANE Select ENSP00000274576.5:p.Ser400=
ENST00000274576.8:c.1200C>T ENSP00000274576.4:p.Ser400=
ENST00000455880.2:c.1224C>T ENSP00000411593.2:p.Ser408=
ENST00000462581.6:c.*958C>T ENSP00000430595.1:n.*958C>T
NM_000171.3:c.1200C>T NP_000162.2:p.Ser400=
NM_001146040.1:c.1224C>T NP_001139512.1:p.Ser408=
NM_001292000.1:c.951C>T NP_001278929.1:p.Ser317=
NM_000171.4:c.1200C>T MANE Select NP_000162.2:p.Ser400=
NM_001146040.2:c.1224C>T NP_001139512.1:p.Ser408=
NM_001292000.2:c.951C>T NP_001278929.1:p.Ser317=