Canonical Allele Identifier: CA2575099321

Linked Data

gnomAD v4: 12-9115889-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115889G>T , CM000674.2:g.9115889G>T GRCh38
NC_000012.11:g.9268485G>T , CM000674.1:g.9268485G>T GRCh37
NC_000012.10:g.9159752G>T NCBI36
NG_011717.1:g.5074C>A
NG_011717.2:g.5074C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.-40C>A (A2M) MANE Select ENSP00000323929.8:n.-40C>A
ENST00000318602.11:c.-40C>A (A2M) ENSP00000323929.7:n.-40C>A
ENST00000404455.2:c.-17-23C>A (A2M) ENSP00000385710.2:n.-17-23C>A
ENST00000467091.1:n.173C>A (A2M)
ENST00000497324.1:n.129C>A (A2M)
NM_000014.4:c.-40C>A (A2M) NP_000005.2:n.-40C>A
XM_006719056.2:c.-40C>A (A2M) XP_006719119.1:n.-40C>A
NM_000014.5:c.-40C>A (A2M) NP_000005.2:n.-40C>A
NM_001347423.1:c.-17-23C>A (A2M) NP_001334352.1:n.-17-23C>A
NM_001347424.1:c.-493C>A (A2M) NP_001334353.1:n.-493C>A
NM_001347425.1:c.-330C>A (A2M) NP_001334354.1:n.-330C>A
XM_006719056.3:c.-40C>A (A2M) XP_006719119.1:n.-40C>A
XM_017018683.1:c.*34-9485G>T (KLRG1) XP_016874172.1:n.*34-9485G>T
XM_017018684.1:c.*34-19197G>T (KLRG1) XP_016874173.1:n.*34-19197G>T
XM_017018685.1:c.*33+57723G>T (KLRG1) XP_016874174.1:n.*33+57723G>T
NM_000014.6:c.-40C>A (A2M) MANE Select NP_000005.3:n.-40C>A
NM_001347423.2:c.-17-23C>A (A2M) NP_001334352.2:n.-17-23C>A
NM_001347424.2:c.-493C>A (A2M) NP_001334353.2:n.-493C>A
NM_001347425.2:c.-330C>A (A2M) NP_001334354.2:n.-330C>A