Canonical Allele Identifier: CA2617534818

Linked Data

gnomAD v4: 12-9116138-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116138C>A , CM000674.2:g.9116138C>A GRCh38
NC_000012.11:g.9268734C>A , CM000674.1:g.9268734C>A GRCh37
NC_000012.10:g.9160001C>A NCBI36
NG_011717.1:g.4825G>T
NG_011717.2:g.4825G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-289G>T (A2M) ENSP00000323929.7:n.-289G>T
ENST00000404455.2:c.-28G>T (A2M) ENSP00000385710.2:n.-28G>T
NM_000014.5:c.-289G>T (A2M) NP_000005.2:n.-289G>T
NM_001347423.1:c.-28G>T (A2M) NP_001334352.1:n.-28G>T
NM_001347424.1:c.-742G>T (A2M) NP_001334353.1:n.-742G>T
NM_001347425.1:c.-579G>T (A2M) NP_001334354.1:n.-579G>T
XM_017018683.1:c.*34-9236C>A (KLRG1) XP_016874172.1:n.*34-9236C>A
XM_017018684.1:c.*34-18948C>A (KLRG1) XP_016874173.1:n.*34-18948C>A
XM_017018685.1:c.*33+57972C>A (KLRG1) XP_016874174.1:n.*33+57972C>A
NM_001347423.2:c.-28G>T (A2M) NP_001334352.2:n.-28G>T