Canonical Allele Identifier: CA130010169

Gene: GLRA1

Linked Data

• dbSNP Id: rs907615248
• gnomAD v4: 5-151829077-G-T
• MyVariant Identifiers: chr5:g.151208638G>T (hg19) ; chr5:g.151829077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829077G>T , CM000667.2:g.151829077G>T	GRCh38
NC_000005.9:g.151208638G>T , CM000667.1:g.151208638G>T	GRCh37
NC_000005.8:g.151188831G>T	NCBI36
NG_011764.1:g.100760C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.913-10C>A MANE Select	ENSP00000274576.5:n.913-10C>A
ENST00000274576.8:c.913-10C>A	ENSP00000274576.4:n.913-10C>A
ENST00000455880.2:c.913-10C>A	ENSP00000411593.2:n.913-10C>A
ENST00000462581.6:c.*671-10C>A	ENSP00000430595.1:n.*671-10C>A
NM_000171.3:c.913-10C>A	NP_000162.2:n.913-10C>A
NM_001146040.1:c.913-10C>A	NP_001139512.1:n.913-10C>A
NM_001292000.1:c.664-10C>A	NP_001278929.1:n.664-10C>A
NM_000171.4:c.913-10C>A MANE Select	NP_000162.2:n.913-10C>A
NM_001146040.2:c.913-10C>A	NP_001139512.1:n.913-10C>A
NM_001292000.2:c.664-10C>A	NP_001278929.1:n.664-10C>A