Canonical Allele Identifier: CA232699841

Linked Data

dbSNP Id: rs768625553
gnomAD v3: 12-9116093-G-T
gnomAD v4: 12-9116093-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116093G>T , CM000674.2:g.9116093G>T GRCh38
NC_000012.11:g.9268689G>T , CM000674.1:g.9268689G>T GRCh37
NC_000012.10:g.9159956G>T NCBI36
NG_011717.1:g.4870C>A
NG_011717.2:g.4870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-244C>A (A2M) ENSP00000323929.7:n.-244C>A
ENST00000404455.2:c.-18+35C>A (A2M) ENSP00000385710.2:n.-18+35C>A
NM_000014.5:c.-244C>A (A2M) NP_000005.2:n.-244C>A
NM_001347423.1:c.-18+35C>A (A2M) NP_001334352.1:n.-18+35C>A
NM_001347424.1:c.-697C>A (A2M) NP_001334353.1:n.-697C>A
NM_001347425.1:c.-534C>A (A2M) NP_001334354.1:n.-534C>A
XM_017018683.1:c.*34-9281G>T (KLRG1) XP_016874172.1:n.*34-9281G>T
XM_017018684.1:c.*34-18993G>T (KLRG1) XP_016874173.1:n.*34-18993G>T
XM_017018685.1:c.*33+57927G>T (KLRG1) XP_016874174.1:n.*33+57927G>T
NM_001347423.2:c.-18+35C>A (A2M) NP_001334352.2:n.-18+35C>A