Canonical Allele Identifier: CA2575099326

Linked Data

gnomAD v4: 12-9115920-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115920A>G , CM000674.2:g.9115920A>G GRCh38
NC_000012.11:g.9268516A>G , CM000674.1:g.9268516A>G GRCh37
NC_000012.10:g.9159783A>G NCBI36
NG_011717.1:g.5043T>C
NG_011717.2:g.5043T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-71T>C (A2M) ENSP00000323929.7:n.-71T>C
ENST00000404455.2:c.-17-54T>C (A2M) ENSP00000385710.2:n.-17-54T>C
ENST00000467091.1:n.142T>C (A2M)
ENST00000497324.1:n.98T>C (A2M)
NM_000014.4:c.-71T>C (A2M) NP_000005.2:n.-71T>C
XM_006719056.2:c.-71T>C (A2M) XP_006719119.1:n.-71T>C
NM_000014.5:c.-71T>C (A2M) NP_000005.2:n.-71T>C
NM_001347423.1:c.-17-54T>C (A2M) NP_001334352.1:n.-17-54T>C
NM_001347424.1:c.-524T>C (A2M) NP_001334353.1:n.-524T>C
NM_001347425.1:c.-361T>C (A2M) NP_001334354.1:n.-361T>C
XM_006719056.3:c.-71T>C (A2M) XP_006719119.1:n.-71T>C
XM_017018683.1:c.*34-9454A>G (KLRG1) XP_016874172.1:n.*34-9454A>G
XM_017018684.1:c.*34-19166A>G (KLRG1) XP_016874173.1:n.*34-19166A>G
XM_017018685.1:c.*33+57754A>G (KLRG1) XP_016874174.1:n.*33+57754A>G
NM_001347423.2:c.-17-54T>C (A2M) NP_001334352.2:n.-17-54T>C