Canonical Allele Identifier: CA2269949964
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs2030807590

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497133T>C , CM000679.2:g.63497133T>C GRCh38
NC_000017.10:g.61574494T>C , CM000679.1:g.61574494T>C GRCh37
NC_000017.9:g.58928226T>C NCBI36
NG_011648.1:g.25061T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3692-4T>C MANE Select ENSP00000290866.4:n.3692-4T>C
ENST00000290863.10:c.1970-4T>C ENSP00000290863.6:n.1970-4T>C
ENST00000290866.9:c.3692-4T>C ENSP00000290866.4:n.3692-4T>C
ENST00000413513.7:c.1847-4T>C ENSP00000392247.3:n.1847-4T>C
ENST00000428043.5:c.*110T>C ENSP00000397593.2:n.*110T>C
ENST00000577418.5:n.702-4T>C
ENST00000577647.2:c.1969+148T>C ENSP00000464149.1:n.1969+148T>C
ENST00000578839.5:c.*1447-4T>C ENSP00000462110.2:n.*1447-4T>C
ENST00000579314.5:c.*1421-4T>C ENSP00000462599.1:n.*1421-4T>C
ENST00000579409.1:c.526T>C
NM_000789.3:c.3692-4T>C NP_000780.1:n.3692-4T>C
NM_001178057.1:c.1847-4T>C NP_001171528.1:n.1847-4T>C
NM_152830.2:c.1970-4T>C NP_690043.1:n.1970-4T>C
XM_005257110.1:c.3143-4T>C XP_005257167.1:n.3143-4T>C
XM_006721737.2:c.2030-4T>C XP_006721800.2:n.2030-4T>C
XM_006721737.3:c.2030-4T>C XP_006721800.2:n.2030-4T>C
NM_000789.4:c.3692-4T>C MANE Select NP_000780.1:n.3692-4T>C
NM_001178057.2:c.1847-4T>C NP_001171528.1:n.1847-4T>C
NM_152830.3:c.1970-4T>C NP_690043.1:n.1970-4T>C
NM_001382700.1:c.3125-4T>C NP_001369629.1:n.3125-4T>C
NM_001382701.1:c.2840-4T>C NP_001369630.1:n.2840-4T>C
NM_001382702.1:c.1307-4T>C NP_001369631.1:n.1307-4T>C
NR_168483.1:n.2070-4T>C