Canonical Allele Identifier: CA356534
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242681
ClinVar RCV Id: RCV000031894
dbSNP Id: rs281864912
MyVariant Identifiers: chr5:g.151239534C>A (hg19) chr5:g.151859973C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859973C>A , CM000667.2:g.151859973C>A GRCh38
NC_000005.9:g.151239534C>A , CM000667.1:g.151239534C>A GRCh37
NC_000005.8:g.151219727C>A NCBI36
NG_011764.1:g.69864G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.288G>T MANE Select ENSP00000274576.5:p.Trp96Cys
ENST00000274576.8:c.288G>T ENSP00000274576.4:p.Trp96Cys
ENST00000455880.2:c.288G>T ENSP00000411593.2:p.Trp96Cys
ENST00000462581.6:c.*46G>T ENSP00000430595.1:n.*46G>T
ENST00000471351.2:n.571G>T
NM_000171.3:c.288G>T NP_000162.2:p.Trp96Cys
NM_001146040.1:c.288G>T NP_001139512.1:p.Trp96Cys
NM_001292000.1:c.39G>T NP_001278929.1:p.Trp13Cys
XM_005268412.2:c.288G>T XP_005268469.1:p.Trp96Cys
XR_002956230.1:n.229+2080C>A
NM_000171.4:c.288G>T MANE Select NP_000162.2:p.Trp96Cys
NM_001146040.2:c.288G>T NP_001139512.1:p.Trp96Cys
NM_001292000.2:c.39G>T NP_001278929.1:p.Trp13Cys
Search 100 bp 5'
Search 100 bp 3'