Canonical Allele Identifier: CA400557844

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566039A>G (hg19) ; chr17:g.63488678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488678A>G , CM000679.2:g.63488678A>G	GRCh38
NC_000017.10:g.61566039A>G , CM000679.1:g.61566039A>G	GRCh37
NC_000017.9:g.58919771A>G	NCBI36
NG_011648.1:g.16606A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2336A>G MANE Select	ENSP00000290866.4:p.Lys779Arg
ENST00000290863.10:c.614A>G	ENSP00000290863.6:p.Lys205Arg
ENST00000290866.9:c.2336A>G	ENSP00000290866.4:p.Lys779Arg
ENST00000413513.7:c.614A>G	ENSP00000392247.3:p.Lys205Arg
ENST00000428043.5:c.2336A>G	ENSP00000397593.2:p.Lys779Arg
ENST00000577647.2:c.614A>G	ENSP00000464149.1:p.Lys205Arg
ENST00000578839.5:c.*406A>G	ENSP00000462110.2:n.*406A>G
ENST00000579204.1:c.595A>G	ENSP00000464629.1:n.595A>G
ENST00000579314.5:c.*65A>G	ENSP00000462599.1:n.*65A>G
ENST00000582005.5:c.*256A>G	ENSP00000462002.1:n.*256A>G
ENST00000582761.1:c.104A>G	ENSP00000462909.1:p.Lys35Arg
ENST00000584865.5:n.282A>G
NM_000789.3:c.2336A>G	NP_000780.1:p.Lys779Arg
NM_001178057.1:c.614A>G	NP_001171528.1:p.Lys205Arg
NM_152830.2:c.614A>G	NP_690043.1:p.Lys205Arg
XM_005257110.1:c.1787A>G	XP_005257167.1:p.Lys596Arg
XM_006721737.2:c.674A>G	XP_006721800.2:p.Lys225Arg
XM_006721737.3:c.674A>G	XP_006721800.2:p.Lys225Arg
NM_000789.4:c.2336A>G MANE Select	NP_000780.1:p.Lys779Arg
NM_001178057.2:c.614A>G	NP_001171528.1:p.Lys205Arg
NM_152830.3:c.614A>G	NP_690043.1:p.Lys205Arg
NM_001382700.1:c.1769A>G	NP_001369629.1:p.Lys590Arg
NM_001382701.1:c.1484A>G	NP_001369630.1:p.Lys495Arg
NM_001382702.1:c.266A>G	NP_001369631.1:p.Lys89Arg
NR_168483.1:n.714A>G