Canonical Allele Identifier: CA152688250

Gene: GNA12

Linked Data

• dbSNP Id: rs982325514
• gnomAD v2: 7-2870091-C-G
• gnomAD v3: 7-2830457-C-G
• gnomAD v4: 7-2830457-C-G
• MyVariant Identifiers: chr7:g.2870091C>G (hg19) ; chr7:g.2830457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2830457C>G , CM000669.2:g.2830457C>G	GRCh38
NC_000007.13:g.2870091C>G , CM000669.1:g.2870091C>G	GRCh37
NC_000007.12:g.2836617C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275364.8:c.309+13396G>C MANE Select	ENSP00000275364.3:n.309+13396G>C
ENST00000275364.7:c.309+13396G>C	ENSP00000275364.3:n.309+13396G>C
NM_001293092.1:c.309+13396G>C	NP_001280021.1:n.309+13396G>C
NM_007353.2:c.309+13396G>C	NP_031379.2:n.309+13396G>C
XM_011515288.1:c.19-35314G>C	XP_011513590.1:n.19-35314G>C
XM_011515288.3:c.19-35314G>C	XP_011513590.1:n.19-35314G>C
NM_007353.3:c.309+13396G>C MANE Select	NP_031379.2:n.309+13396G>C
NM_001293092.2:c.309+13396G>C	NP_001280021.1:n.309+13396G>C