Canonical Allele Identifier: CA400564410

Gene: ACE

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496400T>A , CM000679.2:g.63496400T>A	GRCh38
NC_000017.10:g.61573761T>A , CM000679.1:g.61573761T>A	GRCh37
NC_000017.9:g.58927493T>A	NCBI36
NG_011648.1:g.24328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3387T>A MANE Select	ENSP00000290866.4:p.Phe1129Leu
ENST00000290863.10:c.1665T>A	ENSP00000290863.6:p.Phe555Leu
ENST00000290866.9:c.3387T>A	ENSP00000290866.4:p.Phe1129Leu
ENST00000413513.7:c.1659-398T>A	ENSP00000392247.3:n.1659-398T>A
ENST00000428043.5:c.3387T>A	ENSP00000397593.2:p.Phe1129Leu
ENST00000577418.5:n.397T>A
ENST00000577647.2:c.1665T>A	ENSP00000464149.1:p.Phe555Leu
ENST00000578839.5:c.*1259-398T>A	ENSP00000462110.2:n.*1259-398T>A
ENST00000579314.5:c.*1116T>A	ENSP00000462599.1:n.*1116T>A
ENST00000579409.1:c.74T>A
ENST00000582244.1:n.261T>A
NM_000789.3:c.3387T>A	NP_000780.1:p.Phe1129Leu
NM_001178057.1:c.1659-398T>A	NP_001171528.1:n.1659-398T>A
NM_152830.2:c.1665T>A	NP_690043.1:p.Phe555Leu
XM_005257110.1:c.2838T>A	XP_005257167.1:p.Phe946Leu
XM_006721737.2:c.1725T>A	XP_006721800.2:p.Phe575Leu
XM_006721737.3:c.1725T>A	XP_006721800.2:p.Phe575Leu
NM_000789.4:c.3387T>A MANE Select	NP_000780.1:p.Phe1129Leu
NM_001178057.2:c.1659-398T>A	NP_001171528.1:n.1659-398T>A
NM_152830.3:c.1665T>A	NP_690043.1:p.Phe555Leu
NM_001382700.1:c.2820T>A	NP_001369629.1:p.Phe940Leu
NM_001382701.1:c.2535T>A	NP_001369630.1:p.Phe845Leu
NM_001382702.1:c.1119-398T>A	NP_001369631.1:n.1119-398T>A
NR_168483.1:n.1765T>A