Canonical Allele Identifier: CA1591580183

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151855047G= , CM000667.2:g.151855047G=	GRCh38
NC_000005.9:g.151234608G= , CM000667.1:g.151234608G=	GRCh37
NC_000005.8:g.151214801G=	NCBI36
NG_011764.1:g.74790C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.690C= MANE Select	NP_000162.2:p.Tyr230=
ENST00000274576.9:c.690C= MANE Select	ENSP00000274576.5:p.Tyr230=
NM_000171.3:c.690C=	NP_000162.2:p.Tyr230=
NM_001146040.1:c.690C=	NP_001139512.1:p.Tyr230=
NM_001146040.2:c.690C=	NP_001139512.1:p.Tyr230=
NM_001292000.1:c.441C=	NP_001278929.1:p.Tyr147=
NM_001292000.2:c.441C=	NP_001278929.1:p.Tyr147=
ENST00000274576.8:c.690C=	ENSP00000274576.4:p.Tyr230=
ENST00000455880.2:c.690C=	ENSP00000411593.2:p.Tyr230=
ENST00000462581.6:c.*448C=	ENSP00000430595.1:n.*448C=
ENST00000471351.2:n.973C=
XM_005268412.2:c.690C=	XP_005268469.1:p.Tyr230=
XR_002956230.1:n.41+1659G=