Canonical Allele Identifier: CA2015347046

Linked Data

dbSNP Id: rs1939093555
gnomAD v4: 12-9115987-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115987G>T , CM000674.2:g.9115987G>T GRCh38
NC_000012.11:g.9268583G>T , CM000674.1:g.9268583G>T GRCh37
NC_000012.10:g.9159850G>T NCBI36
NG_011717.1:g.4976C>A
NG_011717.2:g.4976C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-138C>A (A2M) ENSP00000323929.7:n.-138C>A
ENST00000404455.2:c.-17-121C>A (A2M) ENSP00000385710.2:n.-17-121C>A
ENST00000467091.1:n.75C>A (A2M)
ENST00000497324.1:n.31C>A (A2M)
NM_000014.5:c.-138C>A (A2M) NP_000005.2:n.-138C>A
NM_001347423.1:c.-17-121C>A (A2M) NP_001334352.1:n.-17-121C>A
NM_001347424.1:c.-591C>A (A2M) NP_001334353.1:n.-591C>A
NM_001347425.1:c.-428C>A (A2M) NP_001334354.1:n.-428C>A
XM_017018683.1:c.*34-9387G>T (KLRG1) XP_016874172.1:n.*34-9387G>T
XM_017018684.1:c.*34-19099G>T (KLRG1) XP_016874173.1:n.*34-19099G>T
XM_017018685.1:c.*33+57821G>T (KLRG1) XP_016874174.1:n.*33+57821G>T
NM_001347423.2:c.-17-121C>A (A2M) NP_001334352.2:n.-17-121C>A