Canonical Allele Identifier: CA2617534762

Linked Data

gnomAD v4: 12-9116101-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116101T>G , CM000674.2:g.9116101T>G GRCh38
NC_000012.11:g.9268697T>G , CM000674.1:g.9268697T>G GRCh37
NC_000012.10:g.9159964T>G NCBI36
NG_011717.1:g.4862A>C
NG_011717.2:g.4862A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-252A>C (A2M) ENSP00000323929.7:n.-252A>C
ENST00000404455.2:c.-18+27A>C (A2M) ENSP00000385710.2:n.-18+27A>C
NM_000014.5:c.-252A>C (A2M) NP_000005.2:n.-252A>C
NM_001347423.1:c.-18+27A>C (A2M) NP_001334352.1:n.-18+27A>C
NM_001347424.1:c.-705A>C (A2M) NP_001334353.1:n.-705A>C
NM_001347425.1:c.-542A>C (A2M) NP_001334354.1:n.-542A>C
XM_017018683.1:c.*34-9273T>G (KLRG1) XP_016874172.1:n.*34-9273T>G
XM_017018684.1:c.*34-18985T>G (KLRG1) XP_016874173.1:n.*34-18985T>G
XM_017018685.1:c.*33+57935T>G (KLRG1) XP_016874174.1:n.*33+57935T>G
NM_001347423.2:c.-18+27A>C (A2M) NP_001334352.2:n.-18+27A>C