Canonical Allele Identifier: CA2269946027
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs2030172779

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63488849G>T , CM000679.2:g.63488849G>T GRCh38
NC_000017.10:g.61566210G>T , CM000679.1:g.61566210G>T GRCh37
NC_000017.9:g.58919942G>T NCBI36
NG_011648.1:g.16777G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2449+58G>T MANE Select ENSP00000290866.4:n.2449+58G>T
ENST00000290863.10:c.727+58G>T ENSP00000290863.6:n.727+58G>T
ENST00000290866.9:c.2449+58G>T ENSP00000290866.4:n.2449+58G>T
ENST00000413513.7:c.727+58G>T ENSP00000392247.3:n.727+58G>T
ENST00000428043.5:c.2449+58G>T ENSP00000397593.2:n.2449+58G>T
ENST00000577647.2:c.727+58G>T ENSP00000464149.1:n.727+58G>T
ENST00000578839.5:c.*519+58G>T ENSP00000462110.2:n.*519+58G>T
ENST00000579204.1:c.708+58G>T ENSP00000464629.1:n.708+58G>T
ENST00000579314.5:c.*178+58G>T ENSP00000462599.1:n.*178+58G>T
ENST00000582005.5:c.*369+58G>T ENSP00000462002.1:n.*369+58G>T
ENST00000582761.1:c.217+58G>T ENSP00000462909.1:n.217+58G>T
ENST00000584865.5:n.395+58G>T
NM_000789.3:c.2449+58G>T NP_000780.1:n.2449+58G>T
NM_001178057.1:c.727+58G>T NP_001171528.1:n.727+58G>T
NM_152830.2:c.727+58G>T NP_690043.1:n.727+58G>T
XM_005257110.1:c.1900+58G>T XP_005257167.1:n.1900+58G>T
XM_006721737.2:c.787+58G>T XP_006721800.2:n.787+58G>T
XM_006721737.3:c.787+58G>T XP_006721800.2:n.787+58G>T
NM_000789.4:c.2449+58G>T MANE Select NP_000780.1:n.2449+58G>T
NM_001178057.2:c.727+58G>T NP_001171528.1:n.727+58G>T
NM_152830.3:c.727+58G>T NP_690043.1:n.727+58G>T
NM_001382700.1:c.1882+58G>T NP_001369629.1:n.1882+58G>T
NM_001382701.1:c.1597+58G>T NP_001369630.1:n.1597+58G>T
NM_001382702.1:c.379+58G>T NP_001369631.1:n.379+58G>T
NR_168483.1:n.827+58G>T