Canonical Allele Identifier: CA2617534791

Linked Data

gnomAD v4: 12-9116120-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116120G>T , CM000674.2:g.9116120G>T GRCh38
NC_000012.11:g.9268716G>T , CM000674.1:g.9268716G>T GRCh37
NC_000012.10:g.9159983G>T NCBI36
NG_011717.1:g.4843C>A
NG_011717.2:g.4843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-271C>A (A2M) ENSP00000323929.7:n.-271C>A
ENST00000404455.2:c.-18+8C>A (A2M) ENSP00000385710.2:n.-18+8C>A
NM_000014.5:c.-271C>A (A2M) NP_000005.2:n.-271C>A
NM_001347423.1:c.-18+8C>A (A2M) NP_001334352.1:n.-18+8C>A
NM_001347424.1:c.-724C>A (A2M) NP_001334353.1:n.-724C>A
NM_001347425.1:c.-561C>A (A2M) NP_001334354.1:n.-561C>A
XM_017018683.1:c.*34-9254G>T (KLRG1) XP_016874172.1:n.*34-9254G>T
XM_017018684.1:c.*34-18966G>T (KLRG1) XP_016874173.1:n.*34-18966G>T
XM_017018685.1:c.*33+57954G>T (KLRG1) XP_016874174.1:n.*33+57954G>T
NM_001347423.2:c.-18+8C>A (A2M) NP_001334352.2:n.-18+8C>A