Canonical Allele Identifier: CA3523464

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822727C>A , CM000667.2:g.151822727C>A	GRCh38
NC_000005.9:g.151202288C>A , CM000667.1:g.151202288C>A	GRCh37
NC_000005.8:g.151182481C>A	NCBI36
NG_011764.1:g.107110G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.1296G>T MANE Select	NP_000162.2:p.Met432Ile
ENST00000274576.9:c.1296G>T MANE Select	ENSP00000274576.5:p.Met432Ile
NM_000171.3:c.1296G>T	NP_000162.2:p.Met432Ile
NM_001146040.1:c.1320G>T	NP_001139512.1:p.Met440Ile
NM_001146040.2:c.1320G>T	NP_001139512.1:p.Met440Ile
NM_001292000.1:c.1047G>T	NP_001278929.1:p.Met349Ile
NM_001292000.2:c.1047G>T	NP_001278929.1:p.Met349Ile
ENST00000274576.8:c.1296G>T	ENSP00000274576.4:p.Met432Ile
ENST00000455880.2:c.1320G>T	ENSP00000411593.2:p.Met440Ile
ENST00000462581.6:c.*1054G>T	ENSP00000430595.1:n.*1054G>T