Canonical Allele Identifier: CA693347031

Linked Data

dbSNP Id: rs1453346248
gnomAD v4: 12-9116194-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116194C>T , CM000674.2:g.9116194C>T GRCh38
NC_000012.11:g.9268790C>T , CM000674.1:g.9268790C>T GRCh37
NC_000012.10:g.9160057C>T NCBI36
NG_011717.1:g.4769G>A
NG_011717.2:g.4769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404455.2:c.-84G>A (A2M) ENSP00000385710.2:n.-84G>A
NM_000014.5:c.-345G>A (A2M) NP_000005.2:n.-345G>A
NM_001347423.1:c.-84G>A (A2M) NP_001334352.1:n.-84G>A
NM_001347424.1:c.-798G>A (A2M) NP_001334353.1:n.-798G>A
NM_001347425.1:c.-635G>A (A2M) NP_001334354.1:n.-635G>A
XM_017018683.1:c.*34-9180C>T (KLRG1) XP_016874172.1:n.*34-9180C>T
XM_017018684.1:c.*34-18892C>T (KLRG1) XP_016874173.1:n.*34-18892C>T
XM_017018685.1:c.*33+58028C>T (KLRG1) XP_016874174.1:n.*33+58028C>T
NM_001347423.2:c.-84G>A (A2M) NP_001334352.2:n.-84G>A