Canonical Allele Identifier: CA8699311
Community Standard Title: NM_000789.4(ACE):c.945+16A>G
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63481204A>G , CM000679.2:g.63481204A>G GRCh38
NC_000017.10:g.61558565A>G , CM000679.1:g.61558565A>G GRCh37
NC_000017.9:g.58912297A>G NCBI36
NG_011648.1:g.9132A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000789.4:c.945+16A>G MANE Select NP_000780.1:n.945+16A>G
ENST00000290866.10:c.945+16A>G MANE Select ENSP00000290866.4:n.945+16A>G
NM_000789.3:c.945+16A>G NP_000780.1:n.945+16A>G
NM_001382700.1:c.472+16A>G NP_001369629.1:n.472+16A>G
NM_001382701.1:c.93+16A>G NP_001369630.1:n.93+16A>G
ENST00000290866.9:c.945+16A>G ENSP00000290866.4:n.945+16A>G
ENST00000428043.5:c.945+16A>G ENSP00000397593.2:n.945+16A>G
ENST00000582678.5:c.*344+16A>G ENSP00000462995.1:n.*344+16A>G
ENST00000584529.5:n.979+16A>G
XM_005257110.1:c.396+16A>G XP_005257167.1:n.396+16A>G