Canonical Allele Identifier: CA3523440

Gene: GLRA1

Linked Data

• dbSNP Id: rs576016182
• ExAC: 5:151202195 C / T
• gnomAD v2: 5-151202195-C-T
• gnomAD v3: 5-151822634-C-T
• gnomAD v4: 5-151822634-C-T
• MyVariant Identifiers: chr5:g.151202195C>T (hg19) ; chr5:g.151822634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822634C>T , CM000667.2:g.151822634C>T	GRCh38
NC_000005.9:g.151202195C>T , CM000667.1:g.151202195C>T	GRCh37
NC_000005.8:g.151182388C>T	NCBI36
NG_011764.1:g.107203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.*39G>A MANE Select	ENSP00000274576.5:n.*39G>A
ENST00000274576.8:c.*39G>A	ENSP00000274576.4:n.*39G>A
ENST00000455880.2:c.*39G>A	ENSP00000411593.2:n.*39G>A
ENST00000462581.6:c.*1147G>A	ENSP00000430595.1:n.*1147G>A
NM_000171.3:c.*39G>A	NP_000162.2:n.*39G>A
NM_001146040.1:c.*39G>A	NP_001139512.1:n.*39G>A
NM_001292000.1:c.*39G>A	NP_001278929.1:n.*39G>A
NM_000171.4:c.*39G>A MANE Select	NP_000162.2:n.*39G>A
NM_001146040.2:c.*39G>A	NP_001139512.1:n.*39G>A
NM_001292000.2:c.*39G>A	NP_001278929.1:n.*39G>A