Canonical Allele Identifier: CA3523475

Gene: GLRA1

Linked Data

• dbSNP Id: rs745479464
• ExAC: 5:151202349 GC / G
• gnomAD v2: 5-151202349-GC-G
• gnomAD v4: 5-151822788-GC-G
• MyVariant Identifiers: chr5:g.151202350del (hg19) ; chr5:g.151822789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822791del , CM000667.2:g.151822791del	GRCh38
NC_000005.9:g.151202352del , CM000667.1:g.151202352del	GRCh37
NC_000005.8:g.151182545del	NCBI36
NG_011764.1:g.107048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1234del MANE Select	ENSP00000274576.5:p.Ala412ProfsTer?
ENST00000274576.8:c.1234del	ENSP00000274576.4:p.Ala412ProfsTer?
ENST00000455880.2:c.1258del	ENSP00000411593.2:p.Ala420ProfsTer?
ENST00000462581.6:c.*992del	ENSP00000430595.1:n.*992del
NM_000171.3:c.1234del	NP_000162.2:p.Ala412ProfsTer?
NM_001146040.1:c.1258del	NP_001139512.1:p.Ala420ProfsTer?
NM_001292000.1:c.985del	NP_001278929.1:p.Ala329ProfsTer?
NM_000171.4:c.1234del MANE Select	NP_000162.2:p.Ala412ProfsTer?
NM_001146040.2:c.1258del	NP_001139512.1:p.Ala420ProfsTer?
NM_001292000.2:c.985del	NP_001278929.1:p.Ala329ProfsTer?