Canonical Allele Identifier: CA8700050
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 256802
dbSNP Id: rs4341

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63488629G>C , CM000679.2:g.63488629G>C GRCh38
NC_000017.10:g.61565990G>C , CM000679.1:g.61565990G>C GRCh37
NC_000017.9:g.58919722G>C NCBI36
NG_011648.1:g.16557G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.2306-19G>C MANE Select ENSP00000290866.4:p.=
ENST00000290863.10:c.584-19G>C ENSP00000290863.6:p.=
ENST00000290866.9:c.2306-19G>C ENSP00000290866.4:p.=
ENST00000413513.7:c.584-19G>C ENSP00000392247.3:p.=
ENST00000428043.5:c.2306-19G>C ENSP00000397593.2:p.=
ENST00000577647.2:c.584-19G>C ENSP00000464149.1:p.=
ENST00000578839.5:c.*376-19G>C ENSP00000462110.2:p.=
ENST00000579204.1:n.546G>C ENSP00000464629.1:p.=
ENST00000579314.5:c.*16G>C ENSP00000462599.1:p.=
ENST00000582005.5:c.*226-19G>C ENSP00000462002.1:p.=
ENST00000582761.1:n.74-19G>C ENSP00000462909.1:p.=
ENST00000584865.5:n.252-19G>C
NM_000789.3:c.2306-19G>C NP_000780.1:p.=
NM_001178057.1:c.584-19G>C NP_001171528.1:p.=
NM_152830.2:c.584-19G>C NP_690043.1:p.=
XM_005257110.1:c.1757-19G>C XP_005257167.1:p.=
XM_006721737.2:c.644-19G>C XP_006721800.2:p.=
XM_006721737.3:c.644-19G>C XP_006721800.2:p.=
NM_000789.4:c.2306-19G>C MANE Select NP_000780.1:p.=
NM_001178057.2:c.584-19G>C NP_001171528.1:p.=
NM_152830.3:c.584-19G>C NP_690043.1:p.=
NM_001382700.1:c.1739-19G>C NP_001369629.1:p.=
NM_001382701.1:c.1454-19G>C NP_001369630.1:p.=
NM_001382702.1:c.236-19G>C NP_001369631.1:p.=
NR_168483.1:n.665G>C