Canonical Allele Identifier: CA2810114202
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63480716G>C , CM000679.2:g.63480716G>C GRCh38
NC_000017.10:g.61558077G>C , CM000679.1:g.61558077G>C GRCh37
NC_000017.9:g.58911809G>C NCBI36
NG_011648.1:g.8644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.847+188G>C MANE Select ENSP00000290866.4:n.847+188G>C
ENST00000290866.9:c.847+188G>C ENSP00000290866.4:n.847+188G>C
ENST00000428043.5:c.847+188G>C ENSP00000397593.2:n.847+188G>C
ENST00000582627.1:c.847+188G>C ENSP00000462280.1:n.847+188G>C
ENST00000582678.5:c.*246+188G>C ENSP00000462995.1:n.*246+188G>C
ENST00000584529.5:n.881+188G>C
NM_000789.3:c.847+188G>C NP_000780.1:n.847+188G>C
XM_005257110.1:c.298+188G>C XP_005257167.1:n.298+188G>C
NM_000789.4:c.847+188G>C MANE Select NP_000780.1:n.847+188G>C
NM_001382700.1:c.374+188G>C NP_001369629.1:n.374+188G>C
NM_001382701.1:c.-6+188G>C NP_001369630.1:n.-6+188G>C