Canonical Allele Identifier: CA2617534861

Linked Data

gnomAD v4: 12-9116175-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116175A>C , CM000674.2:g.9116175A>C GRCh38
NC_000012.11:g.9268771A>C , CM000674.1:g.9268771A>C GRCh37
NC_000012.10:g.9160038A>C NCBI36
NG_011717.1:g.4788T>G
NG_011717.2:g.4788T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404455.2:c.-65T>G (A2M) ENSP00000385710.2:n.-65T>G
NM_000014.5:c.-326T>G (A2M) NP_000005.2:n.-326T>G
NM_001347423.1:c.-65T>G (A2M) NP_001334352.1:n.-65T>G
NM_001347424.1:c.-779T>G (A2M) NP_001334353.1:n.-779T>G
NM_001347425.1:c.-616T>G (A2M) NP_001334354.1:n.-616T>G
XM_017018683.1:c.*34-9199A>C (KLRG1) XP_016874172.1:n.*34-9199A>C
XM_017018684.1:c.*34-18911A>C (KLRG1) XP_016874173.1:n.*34-18911A>C
XM_017018685.1:c.*33+58009A>C (KLRG1) XP_016874174.1:n.*33+58009A>C
NM_001347423.2:c.-65T>G (A2M) NP_001334352.2:n.-65T>G