Canonical Allele Identifier: CA2617534770

Linked Data

gnomAD v4: 12-9116109-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116109C>A , CM000674.2:g.9116109C>A GRCh38
NC_000012.11:g.9268705C>A , CM000674.1:g.9268705C>A GRCh37
NC_000012.10:g.9159972C>A NCBI36
NG_011717.1:g.4854G>T
NG_011717.2:g.4854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-260G>T (A2M) ENSP00000323929.7:n.-260G>T
ENST00000404455.2:c.-18+19G>T (A2M) ENSP00000385710.2:n.-18+19G>T
NM_000014.5:c.-260G>T (A2M) NP_000005.2:n.-260G>T
NM_001347423.1:c.-18+19G>T (A2M) NP_001334352.1:n.-18+19G>T
NM_001347424.1:c.-713G>T (A2M) NP_001334353.1:n.-713G>T
NM_001347425.1:c.-550G>T (A2M) NP_001334354.1:n.-550G>T
XM_017018683.1:c.*34-9265C>A (KLRG1) XP_016874172.1:n.*34-9265C>A
XM_017018684.1:c.*34-18977C>A (KLRG1) XP_016874173.1:n.*34-18977C>A
XM_017018685.1:c.*33+57943C>A (KLRG1) XP_016874174.1:n.*33+57943C>A
NM_001347423.2:c.-18+19G>T (A2M) NP_001334352.2:n.-18+19G>T