Canonical Allele Identifier: CA2617534766

Linked Data

gnomAD v4: 12-9116104-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116104A>C , CM000674.2:g.9116104A>C GRCh38
NC_000012.11:g.9268700A>C , CM000674.1:g.9268700A>C GRCh37
NC_000012.10:g.9159967A>C NCBI36
NG_011717.1:g.4859T>G
NG_011717.2:g.4859T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-255T>G (A2M) ENSP00000323929.7:n.-255T>G
ENST00000404455.2:c.-18+24T>G (A2M) ENSP00000385710.2:n.-18+24T>G
NM_000014.5:c.-255T>G (A2M) NP_000005.2:n.-255T>G
NM_001347423.1:c.-18+24T>G (A2M) NP_001334352.1:n.-18+24T>G
NM_001347424.1:c.-708T>G (A2M) NP_001334353.1:n.-708T>G
NM_001347425.1:c.-545T>G (A2M) NP_001334354.1:n.-545T>G
XM_017018683.1:c.*34-9270A>C (KLRG1) XP_016874172.1:n.*34-9270A>C
XM_017018684.1:c.*34-18982A>C (KLRG1) XP_016874173.1:n.*34-18982A>C
XM_017018685.1:c.*33+57938A>C (KLRG1) XP_016874174.1:n.*33+57938A>C
NM_001347423.2:c.-18+24T>G (A2M) NP_001334352.2:n.-18+24T>G