Canonical Allele Identifier: CA447420339

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1105495
• ClinVar RCV Id: RCV001429878
• dbSNP Id: rs2113358874
• MyVariant Identifiers: chr5:g.151239351G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859790G>A , CM000667.2:g.151859790G>A	GRCh38
NC_000005.9:g.151239351G>A , CM000667.1:g.151239351G>A	GRCh37
NC_000005.8:g.151219544G>A	NCBI36
NG_011764.1:g.70047C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.471C>T MANE Select	ENSP00000274576.5:p.Ser157=
ENST00000274576.8:c.471C>T	ENSP00000274576.4:p.Ser157=
ENST00000455880.2:c.471C>T	ENSP00000411593.2:p.Ser157=
ENST00000462581.6:c.*229C>T	ENSP00000430595.1:n.*229C>T
ENST00000471351.2:n.754C>T
NM_000171.3:c.471C>T	NP_000162.2:p.Ser157=
NM_001146040.1:c.471C>T	NP_001139512.1:p.Ser157=
NM_001292000.1:c.222C>T	NP_001278929.1:p.Ser74=
XM_005268412.2:c.471C>T	XP_005268469.1:p.Ser157=
XR_002956230.1:n.229+1897G>A
NM_000171.4:c.471C>T MANE Select	NP_000162.2:p.Ser157=
NM_001146040.2:c.471C>T	NP_001139512.1:p.Ser157=
NM_001292000.2:c.222C>T	NP_001278929.1:p.Ser74=