Canonical Allele Identifier: CA3523469

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822765G>A , CM000667.2:g.151822765G>A	GRCh38
NC_000005.9:g.151202326G>A , CM000667.1:g.151202326G>A	GRCh37
NC_000005.8:g.151182519G>A	NCBI36
NG_011764.1:g.107072C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.1258C>T MANE Select	NP_000162.2:p.Arg420Cys
ENST00000274576.9:c.1258C>T MANE Select	ENSP00000274576.5:p.Arg420Cys
NM_000171.3:c.1258C>T	NP_000162.2:p.Arg420Cys
NM_001146040.1:c.1282C>T	NP_001139512.1:p.Arg428Cys
NM_001146040.2:c.1282C>T	NP_001139512.1:p.Arg428Cys
NM_001292000.1:c.1009C>T	NP_001278929.1:p.Arg337Cys
NM_001292000.2:c.1009C>T	NP_001278929.1:p.Arg337Cys
ENST00000274576.8:c.1258C>T	ENSP00000274576.4:p.Arg420Cys
ENST00000455880.2:c.1282C>T	ENSP00000411593.2:p.Arg428Cys
ENST00000462581.6:c.*1016C>T	ENSP00000430595.1:n.*1016C>T