Canonical Allele Identifier: CA232699828

Linked Data

dbSNP Id: rs755033622
gnomAD v3: 12-9116017-A-G
gnomAD v4: 12-9116017-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116017A>G , CM000674.2:g.9116017A>G GRCh38
NC_000012.11:g.9268613A>G , CM000674.1:g.9268613A>G GRCh37
NC_000012.10:g.9159880A>G NCBI36
NG_011717.1:g.4946T>C
NG_011717.2:g.4946T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-168T>C (A2M) ENSP00000323929.7:n.-168T>C
ENST00000404455.2:c.-18+111T>C (A2M) ENSP00000385710.2:n.-18+111T>C
ENST00000467091.1:n.45T>C (A2M)
ENST00000497324.1:n.1T>C (A2M)
NM_000014.5:c.-168T>C (A2M) NP_000005.2:n.-168T>C
NM_001347423.1:c.-18+111T>C (A2M) NP_001334352.1:n.-18+111T>C
NM_001347424.1:c.-621T>C (A2M) NP_001334353.1:n.-621T>C
NM_001347425.1:c.-458T>C (A2M) NP_001334354.1:n.-458T>C
XM_017018683.1:c.*34-9357A>G (KLRG1) XP_016874172.1:n.*34-9357A>G
XM_017018684.1:c.*34-19069A>G (KLRG1) XP_016874173.1:n.*34-19069A>G
XM_017018685.1:c.*33+57851A>G (KLRG1) XP_016874174.1:n.*33+57851A>G
NM_001347423.2:c.-18+111T>C (A2M) NP_001334352.2:n.-18+111T>C