Canonical Allele Identifier: CA12677305
Gene: GNA12 HGNC NCBI
AMZ1 HGNC NCBI

Linked Data

dbSNP Id: rs798497
gnomAD v2: 7-2795957-A-G
gnomAD v3: 7-2756323-A-G
gnomAD v4: 7-2756323-A-G
MyVariant Identifiers: chr7:g.2795957A>G (hg19) chr7:g.2756323A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2756323A>G , CM000669.2:g.2756323A>G GRCh38
NC_000007.13:g.2795957A>G , CM000669.1:g.2795957A>G GRCh37
NC_000007.12:g.2762483A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275364.8:c.526-22822T>C (GNA12) MANE Select ENSP00000275364.3:n.526-22822T>C
ENST00000275364.7:c.526-22822T>C (GNA12) ENSP00000275364.3:n.526-22822T>C
ENST00000407653.1:c.297+6269T>C (GNA12) ENSP00000386054.1:n.297+6269T>C
ENST00000407904.7:c.349-22822T>C (GNA12) ENSP00000385935.3:n.349-22822T>C
ENST00000471281.5:n.427-22822T>C (GNA12)
ENST00000485329.1:n.111+4019T>C (GNA12)
ENST00000489665.1:n.551-8389A>G (AMZ1)
ENST00000491117.5:n.134+6753T>C (GNA12)
ENST00000496740.6:n.472+5847T>C (GNA12)
NM_001282440.1:c.297+6269T>C (GNA12) NP_001269369.1:n.297+6269T>C
NM_001282441.1:c.349-22822T>C (GNA12) NP_001269370.1:n.349-22822T>C
NM_001293092.1:c.526-24573T>C (GNA12) NP_001280021.1:n.526-24573T>C
NM_007353.2:c.526-22822T>C (GNA12) NP_031379.2:n.526-22822T>C
XM_011515151.1:c.779-8389A>G (AMZ1) XP_011513453.1:n.779-8389A>G
XM_011515288.1:c.235-22822T>C (GNA12) XP_011513590.1:n.235-22822T>C
NM_001321766.1:c.949-8389A>G (AMZ1) NP_001308695.1:n.949-8389A>G
XM_011515151.3:c.779-8389A>G (AMZ1) XP_011513453.1:n.779-8389A>G
XM_011515288.3:c.235-22822T>C (GNA12) XP_011513590.1:n.235-22822T>C
XM_017011774.2:c.779-8389A>G (AMZ1) XP_016867263.1:n.779-8389A>G
NM_007353.3:c.526-22822T>C (GNA12) MANE Select NP_031379.2:n.526-22822T>C
NM_001282441.2:c.349-22822T>C (GNA12) NP_001269370.1:n.349-22822T>C
NM_001293092.2:c.526-24573T>C (GNA12) NP_001280021.1:n.526-24573T>C
NM_001321766.2:c.949-8389A>G (AMZ1) NP_001308695.1:n.949-8389A>G
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