Canonical Allele Identifier: CA3523720

Gene: GLRA1

Linked Data

• dbSNP Id: rs763726037
• ExAC: 5:151239535 C / G
• gnomAD v2: 5-151239535-C-G
• gnomAD v4: 5-151859974-C-G
• MyVariant Identifiers: chr5:g.151239535C>G (hg19) ; chr5:g.151859974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859974C>G , CM000667.2:g.151859974C>G	GRCh38
NC_000005.9:g.151239535C>G , CM000667.1:g.151239535C>G	GRCh37
NC_000005.8:g.151219728C>G	NCBI36
NG_011764.1:g.69863G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.287G>C MANE Select	ENSP00000274576.5:p.Trp96Ser
ENST00000274576.8:c.287G>C	ENSP00000274576.4:p.Trp96Ser
ENST00000455880.2:c.287G>C	ENSP00000411593.2:p.Trp96Ser
ENST00000462581.6:c.*45G>C	ENSP00000430595.1:n.*45G>C
ENST00000471351.2:n.570G>C
NM_000171.3:c.287G>C	NP_000162.2:p.Trp96Ser
NM_001146040.1:c.287G>C	NP_001139512.1:p.Trp96Ser
NM_001292000.1:c.38G>C	NP_001278929.1:p.Trp13Ser
XM_005268412.2:c.287G>C	XP_005268469.1:p.Trp96Ser
XR_002956230.1:n.229+2081C>G
NM_000171.4:c.287G>C MANE Select	NP_000162.2:p.Trp96Ser
NM_001146040.2:c.287G>C	NP_001139512.1:p.Trp96Ser
NM_001292000.2:c.38G>C	NP_001278929.1:p.Trp13Ser