Canonical Allele Identifier: CA563833612

Gene: GRIA1

Linked Data

• dbSNP Id: rs1287418673
• gnomAD v2: 5-152870820-G-C
• gnomAD v3: 5-153491260-G-C
• gnomAD v4: 5-153491260-G-C
• MyVariant Identifiers: chr5:g.152870820G>C (hg19) ; chr5:g.153491260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.153491260G>C , CM000667.2:g.153491260G>C	GRCh38
NC_000005.9:g.152870820G>C , CM000667.1:g.152870820G>C	GRCh37
NC_000005.8:g.152851013G>C	NCBI36
NG_047078.1:g.6565G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340592.10:c.82+290G>C	ENSP00000339343.5:n.82+290G>C
ENST00000520353.6:c.-126+290G>C	ENSP00000516539.1:n.-126+290G>C
ENST00000706733.1:c.82+290G>C	ENSP00000516520.1:n.82+290G>C
ENST00000706734.1:c.-49G>C	ENSP00000516521.1:n.-49G>C
ENST00000706767.1:c.82+290G>C	ENSP00000516540.1:n.82+290G>C
ENST00000285900.10:c.82+290G>C MANE Select	ENSP00000285900.4:n.82+290G>C
ENST00000285900.9:c.82+290G>C	ENSP00000285900.4:n.82+290G>C
ENST00000340592.9:c.82+290G>C	ENSP00000339343.5:n.82+290G>C
ENST00000474198.1:n.327+290G>C
ENST00000481559.6:n.223+1423G>C
ENST00000517469.1:n.64G>C
ENST00000518142.5:c.82+290G>C	ENSP00000427920.1:n.82+290G>C
ENST00000518862.5:n.30+749G>C
ENST00000520353.5:n.224+290G>C
NM_000827.3:c.82+290G>C	NP_000818.2:n.82+290G>C
NM_001114183.1:c.82+290G>C	NP_001107655.1:n.82+290G>C
NM_001258019.1:c.82+290G>C	NP_001244948.1:n.82+290G>C
NM_001258020.1:c.-261+290G>C	NP_001244949.1:n.-261+290G>C
NR_047578.1:n.447+290G>C
XM_011537635.1:c.22+1423G>C	XP_011535937.1:n.22+1423G>C
XR_427776.2:n.352+290G>C
NM_001364165.1:c.82+290G>C	NP_001351094.1:n.82+290G>C
NM_001364166.1:c.-49G>C	NP_001351095.1:n.-49G>C
NM_001364167.1:c.-198G>C	NP_001351096.1:n.-198G>C
NR_157093.1:n.301+290G>C
NM_000827.4:c.82+290G>C MANE Select	NP_000818.2:n.82+290G>C
NM_001114183.2:c.82+290G>C	NP_001107655.1:n.82+290G>C
NM_001258019.2:c.82+290G>C	NP_001244948.1:n.82+290G>C
NM_001258020.2:c.-261+290G>C	NP_001244949.1:n.-261+290G>C
NM_001364165.2:c.82+290G>C	NP_001351094.1:n.82+290G>C
NM_001364166.2:c.-49G>C	NP_001351095.1:n.-49G>C
NM_001364167.2:c.-198G>C	NP_001351096.1:n.-198G>C
NR_047578.2:n.301+290G>C
NR_157093.2:n.301+290G>C