Canonical Allele Identifier: CA3523804

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 464189
• ClinVar RCV Id: RCV000525987 ; RCV002231755 ; RCV004023976
• dbSNP Id: rs376426309
• ExAC: 5:151304061 A / G
• gnomAD v2: 5-151304061-A-G
• gnomAD v3: 5-151924500-A-G
• gnomAD v4: 5-151924500-A-G
• COSMIC: COSM3612761
• MyVariant Identifiers: chr5:g.151304061A>G (hg19) ; chr5:g.151924500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151924500A>G , CM000667.2:g.151924500A>G	GRCh38
NC_000005.9:g.151304061A>G , CM000667.1:g.151304061A>G	GRCh37
NC_000005.8:g.151284254A>G	NCBI36
NG_011764.1:g.5337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.50T>C MANE Select	ENSP00000274576.5:p.Phe17Ser
ENST00000274576.8:c.50T>C	ENSP00000274576.4:p.Phe17Ser
ENST00000455880.2:c.50T>C	ENSP00000411593.2:p.Phe17Ser
ENST00000462581.6:c.50T>C	ENSP00000430595.1:p.Phe17Ser
ENST00000471351.2:n.333T>C
NM_000171.3:c.50T>C	NP_000162.2:p.Phe17Ser
NM_001146040.1:c.50T>C	NP_001139512.1:p.Phe17Ser
NM_001292000.1:c.-72T>C	NP_001278929.1:n.-72T>C
XM_005268412.2:c.50T>C	XP_005268469.1:p.Phe17Ser
NM_000171.4:c.50T>C MANE Select	NP_000162.2:p.Phe17Ser
NM_001146040.2:c.50T>C	NP_001139512.1:p.Phe17Ser
NM_001292000.2:c.-72T>C	NP_001278929.1:n.-72T>C