Canonical Allele Identifier: CA361849678

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2090079
• ClinVar RCV Id: RCV003020728
• MyVariant Identifiers: chr5:g.151202271T>C (hg19) ; chr5:g.151822710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822710T>C , CM000667.2:g.151822710T>C	GRCh38
NC_000005.9:g.151202271T>C , CM000667.1:g.151202271T>C	GRCh37
NC_000005.8:g.151182464T>C	NCBI36
NG_011764.1:g.107127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1313A>G MANE Select	ENSP00000274576.5:p.Tyr438Cys
ENST00000274576.8:c.1313A>G	ENSP00000274576.4:p.Tyr438Cys
ENST00000455880.2:c.1337A>G	ENSP00000411593.2:p.Tyr446Cys
ENST00000462581.6:c.*1071A>G	ENSP00000430595.1:n.*1071A>G
NM_000171.3:c.1313A>G	NP_000162.2:p.Tyr438Cys
NM_001146040.1:c.1337A>G	NP_001139512.1:p.Tyr446Cys
NM_001292000.1:c.1064A>G	NP_001278929.1:p.Tyr355Cys
NM_000171.4:c.1313A>G MANE Select	NP_000162.2:p.Tyr438Cys
NM_001146040.2:c.1337A>G	NP_001139512.1:p.Tyr446Cys
NM_001292000.2:c.1064A>G	NP_001278929.1:p.Tyr355Cys