Canonical Allele Identifier: CA361849483

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151202238T>A (hg19) ; chr5:g.151822677T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822677T>A , CM000667.2:g.151822677T>A	GRCh38
NC_000005.9:g.151202238T>A , CM000667.1:g.151202238T>A	GRCh37
NC_000005.8:g.151182431T>A	NCBI36
NG_011764.1:g.107160A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1346A>T MANE Select	ENSP00000274576.5:p.Gln449Leu
ENST00000274576.8:c.1346A>T	ENSP00000274576.4:p.Gln449Leu
ENST00000455880.2:c.1370A>T	ENSP00000411593.2:p.Gln457Leu
ENST00000462581.6:c.*1104A>T	ENSP00000430595.1:n.*1104A>T
NM_000171.3:c.1346A>T	NP_000162.2:p.Gln449Leu
NM_001146040.1:c.1370A>T	NP_001139512.1:p.Gln457Leu
NM_001292000.1:c.1097A>T	NP_001278929.1:p.Gln366Leu
NM_000171.4:c.1346A>T MANE Select	NP_000162.2:p.Gln449Leu
NM_001146040.2:c.1370A>T	NP_001139512.1:p.Gln457Leu
NM_001292000.2:c.1097A>T	NP_001278929.1:p.Gln366Leu