Canonical Allele Identifier: CA361849950

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151202385G>C (hg19) ; chr5:g.151822824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822824G>C , CM000667.2:g.151822824G>C	GRCh38
NC_000005.9:g.151202385G>C , CM000667.1:g.151202385G>C	GRCh37
NC_000005.8:g.151182578G>C	NCBI36
NG_011764.1:g.107013C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.1199C>G MANE Select	ENSP00000274576.5:p.Ser400Cys
ENST00000274576.8:c.1199C>G	ENSP00000274576.4:p.Ser400Cys
ENST00000455880.2:c.1223C>G	ENSP00000411593.2:p.Ser408Cys
ENST00000462581.6:c.*957C>G	ENSP00000430595.1:n.*957C>G
NM_000171.3:c.1199C>G	NP_000162.2:p.Ser400Cys
NM_001146040.1:c.1223C>G	NP_001139512.1:p.Ser408Cys
NM_001292000.1:c.950C>G	NP_001278929.1:p.Ser317Cys
NM_000171.4:c.1199C>G MANE Select	NP_000162.2:p.Ser400Cys
NM_001146040.2:c.1223C>G	NP_001139512.1:p.Ser408Cys
NM_001292000.2:c.950C>G	NP_001278929.1:p.Ser317Cys