Canonical Allele Identifier: CA501187317
Gene: ACE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61566112G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63488751G>C , CM000679.2:g.63488751G>C GRCh38
NC_000017.10:g.61566112G>C , CM000679.1:g.61566112G>C GRCh37
NC_000017.9:g.58919844G>C NCBI36
NG_011648.1:g.16679G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2409G>C MANE Select ENSP00000290866.4:p.Pro803=
ENST00000290863.10:c.687G>C ENSP00000290863.6:p.Pro229=
ENST00000290866.9:c.2409G>C ENSP00000290866.4:p.Pro803=
ENST00000413513.7:c.687G>C ENSP00000392247.3:p.Pro229=
ENST00000428043.5:c.2409G>C ENSP00000397593.2:p.Pro803=
ENST00000577647.2:c.687G>C ENSP00000464149.1:p.Pro229=
ENST00000578839.5:c.*479G>C ENSP00000462110.2:n.*479G>C
ENST00000579204.1:c.668G>C ENSP00000464629.1:n.668G>C
ENST00000579314.5:c.*138G>C ENSP00000462599.1:n.*138G>C
ENST00000582005.5:c.*329G>C ENSP00000462002.1:n.*329G>C
ENST00000582761.1:c.177G>C ENSP00000462909.1:p.Pro59=
ENST00000584865.5:n.355G>C
NM_000789.3:c.2409G>C NP_000780.1:p.Pro803=
NM_001178057.1:c.687G>C NP_001171528.1:p.Pro229=
NM_152830.2:c.687G>C NP_690043.1:p.Pro229=
XM_005257110.1:c.1860G>C XP_005257167.1:p.Pro620=
XM_006721737.2:c.747G>C XP_006721800.2:p.Pro249=
XM_006721737.3:c.747G>C XP_006721800.2:p.Pro249=
NM_000789.4:c.2409G>C MANE Select NP_000780.1:p.Pro803=
NM_001178057.2:c.687G>C NP_001171528.1:p.Pro229=
NM_152830.3:c.687G>C NP_690043.1:p.Pro229=
NM_001382700.1:c.1842G>C NP_001369629.1:p.Pro614=
NM_001382701.1:c.1557G>C NP_001369630.1:p.Pro519=
NM_001382702.1:c.339G>C NP_001369631.1:p.Pro113=
NR_168483.1:n.787G>C