Canonical Allele Identifier: CA400557939

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566081A>G (hg19) ; chr17:g.63488720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488720A>G , CM000679.2:g.63488720A>G	GRCh38
NC_000017.10:g.61566081A>G , CM000679.1:g.61566081A>G	GRCh37
NC_000017.9:g.58919813A>G	NCBI36
NG_011648.1:g.16648A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2378A>G MANE Select	ENSP00000290866.4:p.Lys793Arg
ENST00000290863.10:c.656A>G	ENSP00000290863.6:p.Lys219Arg
ENST00000290866.9:c.2378A>G	ENSP00000290866.4:p.Lys793Arg
ENST00000413513.7:c.656A>G	ENSP00000392247.3:p.Lys219Arg
ENST00000428043.5:c.2378A>G	ENSP00000397593.2:p.Lys793Arg
ENST00000577647.2:c.656A>G	ENSP00000464149.1:p.Lys219Arg
ENST00000578839.5:c.*448A>G	ENSP00000462110.2:n.*448A>G
ENST00000579204.1:c.637A>G	ENSP00000464629.1:n.637A>G
ENST00000579314.5:c.*107A>G	ENSP00000462599.1:n.*107A>G
ENST00000582005.5:c.*298A>G	ENSP00000462002.1:n.*298A>G
ENST00000582761.1:c.146A>G	ENSP00000462909.1:p.Lys49Arg
ENST00000584865.5:n.324A>G
NM_000789.3:c.2378A>G	NP_000780.1:p.Lys793Arg
NM_001178057.1:c.656A>G	NP_001171528.1:p.Lys219Arg
NM_152830.2:c.656A>G	NP_690043.1:p.Lys219Arg
XM_005257110.1:c.1829A>G	XP_005257167.1:p.Lys610Arg
XM_006721737.2:c.716A>G	XP_006721800.2:p.Lys239Arg
XM_006721737.3:c.716A>G	XP_006721800.2:p.Lys239Arg
NM_000789.4:c.2378A>G MANE Select	NP_000780.1:p.Lys793Arg
NM_001178057.2:c.656A>G	NP_001171528.1:p.Lys219Arg
NM_152830.3:c.656A>G	NP_690043.1:p.Lys219Arg
NM_001382700.1:c.1811A>G	NP_001369629.1:p.Lys604Arg
NM_001382701.1:c.1526A>G	NP_001369630.1:p.Lys509Arg
NM_001382702.1:c.308A>G	NP_001369631.1:p.Lys103Arg
NR_168483.1:n.756A>G