Canonical Allele Identifier: CA361850414

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1356375
• ClinVar RCV Id: RCV001876709
• dbSNP Id: rs2113277422
• MyVariant Identifiers: chr5:g.151202534A>T (hg19) ; chr5:g.151822973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822973A>T , CM000667.2:g.151822973A>T	GRCh38
NC_000005.9:g.151202534A>T , CM000667.1:g.151202534A>T	GRCh37
NC_000005.8:g.151182727A>T	NCBI36
NG_011764.1:g.106864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1060-10T>A MANE Select	ENSP00000274576.5:n.1060-10T>A
ENST00000274576.8:c.1060-10T>A	ENSP00000274576.4:n.1060-10T>A
ENST00000455880.2:c.1074T>A	ENSP00000411593.2:p.Asn358Lys
ENST00000462581.6:c.*818-10T>A	ENSP00000430595.1:n.*818-10T>A
NM_000171.3:c.1060-10T>A	NP_000162.2:n.1060-10T>A
NM_001146040.1:c.1074T>A	NP_001139512.1:p.Asn358Lys
NM_001292000.1:c.811-10T>A	NP_001278929.1:n.811-10T>A
NM_000171.4:c.1060-10T>A MANE Select	NP_000162.2:n.1060-10T>A
NM_001146040.2:c.1074T>A	NP_001139512.1:p.Asn358Lys
NM_001292000.2:c.811-10T>A	NP_001278929.1:n.811-10T>A