Canonical Allele Identifier: CA361849815

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151822767-G-A
• MyVariant Identifiers: chr5:g.151202328G>A (hg19) ; chr5:g.151822767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822767G>A , CM000667.2:g.151822767G>A	GRCh38
NC_000005.9:g.151202328G>A , CM000667.1:g.151202328G>A	GRCh37
NC_000005.8:g.151182521G>A	NCBI36
NG_011764.1:g.107070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1256C>T MANE Select	ENSP00000274576.5:p.Ser419Phe
ENST00000274576.8:c.1256C>T	ENSP00000274576.4:p.Ser419Phe
ENST00000455880.2:c.1280C>T	ENSP00000411593.2:p.Ser427Phe
ENST00000462581.6:c.*1014C>T	ENSP00000430595.1:n.*1014C>T
NM_000171.3:c.1256C>T	NP_000162.2:p.Ser419Phe
NM_001146040.1:c.1280C>T	NP_001139512.1:p.Ser427Phe
NM_001292000.1:c.1007C>T	NP_001278929.1:p.Ser336Phe
NM_000171.4:c.1256C>T MANE Select	NP_000162.2:p.Ser419Phe
NM_001146040.2:c.1280C>T	NP_001139512.1:p.Ser427Phe
NM_001292000.2:c.1007C>T	NP_001278929.1:p.Ser336Phe