Canonical Allele Identifier: CA10619772

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 352328
• ClinVar RCV Id: RCV000322750 ; RCV001662323
• dbSNP Id: rs2071221
• gnomAD v2: 5-151304306-G-A
• gnomAD v3: 5-151924745-G-A
• gnomAD v4: 5-151924745-G-A
• MyVariant Identifiers: chr5:g.151304306G>A (hg19) ; chr5:g.151924745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151924745G>A , CM000667.2:g.151924745G>A	GRCh38
NC_000005.9:g.151304306G>A , CM000667.1:g.151304306G>A	GRCh37
NC_000005.8:g.151284499G>A	NCBI36
NG_011764.1:g.5092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.-196C>T MANE Select	ENSP00000274576.5:n.-196C>T
ENST00000274576.8:c.-196C>T	ENSP00000274576.4:n.-196C>T
ENST00000455880.2:c.-196C>T	ENSP00000411593.2:n.-196C>T
ENST00000462581.6:c.-196C>T	ENSP00000430595.1:n.-196C>T
ENST00000471351.2:n.88C>T
NM_000171.3:c.-196C>T	NP_000162.2:n.-196C>T
NM_001146040.1:c.-196C>T	NP_001139512.1:n.-196C>T
NM_001292000.1:c.-317C>T	NP_001278929.1:n.-317C>T
XM_005268412.2:c.-196C>T	XP_005268469.1:n.-196C>T
NM_000171.4:c.-196C>T MANE Select	NP_000162.2:n.-196C>T
NM_001146040.2:c.-196C>T	NP_001139512.1:n.-196C>T
NM_001292000.2:c.-317C>T	NP_001278929.1:n.-317C>T