Canonical Allele Identifier: CA2617534744

Linked Data

gnomAD v4: 12-9116068-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116068G>T , CM000674.2:g.9116068G>T GRCh38
NC_000012.11:g.9268664G>T , CM000674.1:g.9268664G>T GRCh37
NC_000012.10:g.9159931G>T NCBI36
NG_011717.1:g.4895C>A
NG_011717.2:g.4895C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-219C>A (A2M) ENSP00000323929.7:n.-219C>A
ENST00000404455.2:c.-18+60C>A (A2M) ENSP00000385710.2:n.-18+60C>A
NM_000014.5:c.-219C>A (A2M) NP_000005.2:n.-219C>A
NM_001347423.1:c.-18+60C>A (A2M) NP_001334352.1:n.-18+60C>A
NM_001347424.1:c.-672C>A (A2M) NP_001334353.1:n.-672C>A
NM_001347425.1:c.-509C>A (A2M) NP_001334354.1:n.-509C>A
XM_017018683.1:c.*34-9306G>T (KLRG1) XP_016874172.1:n.*34-9306G>T
XM_017018684.1:c.*34-19018G>T (KLRG1) XP_016874173.1:n.*34-19018G>T
XM_017018685.1:c.*33+57902G>T (KLRG1) XP_016874174.1:n.*33+57902G>T
NM_001347423.2:c.-18+60C>A (A2M) NP_001334352.2:n.-18+60C>A