Canonical Allele Identifier: CA383828700

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068763T>A , CM000674.2:g.9068763T>A GRCh38
NC_000012.11:g.9221359T>A , CM000674.1:g.9221359T>A GRCh37
NC_000012.10:g.9112626T>A NCBI36
NG_011717.1:g.52200A>T
NG_011717.2:g.52200A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4343A>T (A2M) MANE Select ENSP00000323929.8:p.Lys1448Ile
ENST00000318602.11:c.4343A>T (A2M) ENSP00000323929.7:p.Lys1448Ile
ENST00000495442.1:n.193A>T (A2M)
ENST00000495709.1:n.316A>T (A2M)
ENST00000543436.2:n.452-951A>T (A2M)
NM_000014.4:c.4343A>T (A2M) NP_000005.2:p.Lys1448Ile
XM_006719056.2:c.4343A>T (A2M) XP_006719119.1:p.Lys1448Ile
NM_000014.5:c.4343A>T (A2M) NP_000005.2:p.Lys1448Ile
NM_001347423.1:c.4343A>T (A2M) NP_001334352.1:p.Lys1448Ile
NM_001347424.1:c.4043A>T (A2M) NP_001334353.1:p.Lys1348Ile
NM_001347425.1:c.3893A>T (A2M) NP_001334354.1:p.Lys1298Ile
XM_006719056.3:c.4343A>T (A2M) XP_006719119.1:p.Lys1448Ile
XM_017018683.1:c.*33+10597T>A (KLRG1) XP_016874172.1:n.*33+10597T>A
XM_017018684.1:c.*33+10597T>A (KLRG1) XP_016874173.1:n.*33+10597T>A
XM_017018685.1:c.*33+10597T>A (KLRG1) XP_016874174.1:n.*33+10597T>A
NM_000014.6:c.4343A>T (A2M) MANE Select NP_000005.3:p.Lys1448Ile
NM_001347423.2:c.4343A>T (A2M) NP_001334352.2:p.Lys1448Ile
NM_001347424.2:c.4043A>T (A2M) NP_001334353.2:p.Lys1348Ile
NM_001347425.2:c.3893A>T (A2M) NP_001334354.2:p.Lys1298Ile