Canonical Allele Identifier: CA12965829
Gene: GRIN3A HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101605720T>A , CM000671.2:g.101605720T>A GRCh38
NC_000009.11:g.104368002T>A , CM000671.1:g.104368002T>A GRCh37
NC_000009.10:g.103407823T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361820.6:c.2766+7656A>T MANE Select ENSP00000355155.3:n.2766+7656A>T
ENST00000361820.3:c.2766+7656A>T ENSP00000355155.3:n.2766+7656A>T
ENST00000479772.1:n.148-2686A>T
NM_133445.2:c.2766+7656A>T NP_597702.2:n.2766+7656A>T
XM_011518212.1:c.2767-2686A>T XP_011516514.1:n.2767-2686A>T
XR_929711.1:n.3164-2686A>T
NM_133445.3:c.2766+7656A>T MANE Select NP_597702.2:n.2766+7656A>T