Canonical Allele Identifier: CA2617534898

Linked Data

gnomAD v4: 12-9116193-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116193A>G , CM000674.2:g.9116193A>G GRCh38
NC_000012.11:g.9268789A>G , CM000674.1:g.9268789A>G GRCh37
NC_000012.10:g.9160056A>G NCBI36
NG_011717.1:g.4770T>C
NG_011717.2:g.4770T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404455.2:c.-83T>C (A2M) ENSP00000385710.2:n.-83T>C
NM_000014.5:c.-344T>C (A2M) NP_000005.2:n.-344T>C
NM_001347423.1:c.-83T>C (A2M) NP_001334352.1:n.-83T>C
NM_001347424.1:c.-797T>C (A2M) NP_001334353.1:n.-797T>C
NM_001347425.1:c.-634T>C (A2M) NP_001334354.1:n.-634T>C
XM_017018683.1:c.*34-9181A>G (KLRG1) XP_016874172.1:n.*34-9181A>G
XM_017018684.1:c.*34-18893A>G (KLRG1) XP_016874173.1:n.*34-18893A>G
XM_017018685.1:c.*33+58027A>G (KLRG1) XP_016874174.1:n.*33+58027A>G
NM_001347423.2:c.-83T>C (A2M) NP_001334352.2:n.-83T>C