Canonical Allele Identifier: CA361849722

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151202285G>T (hg19) ; chr5:g.151822724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822724G>T , CM000667.2:g.151822724G>T	GRCh38
NC_000005.9:g.151202285G>T , CM000667.1:g.151202285G>T	GRCh37
NC_000005.8:g.151182478G>T	NCBI36
NG_011764.1:g.107113C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.1299C>A MANE Select	ENSP00000274576.5:p.Phe433Leu
ENST00000274576.8:c.1299C>A	ENSP00000274576.4:p.Phe433Leu
ENST00000455880.2:c.1323C>A	ENSP00000411593.2:p.Phe441Leu
ENST00000462581.6:c.*1057C>A	ENSP00000430595.1:n.*1057C>A
NM_000171.3:c.1299C>A	NP_000162.2:p.Phe433Leu
NM_001146040.1:c.1323C>A	NP_001139512.1:p.Phe441Leu
NM_001292000.1:c.1050C>A	NP_001278929.1:p.Phe350Leu
NM_000171.4:c.1299C>A MANE Select	NP_000162.2:p.Phe433Leu
NM_001146040.2:c.1323C>A	NP_001139512.1:p.Phe441Leu
NM_001292000.2:c.1050C>A	NP_001278929.1:p.Phe350Leu