Canonical Allele Identifier: CA400568854

Gene: ACE

Linked Data

• gnomAD v4: 17-63497235-T-C
• MyVariant Identifiers: chr17:g.61574596T>C (hg19) ; chr17:g.63497235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497235T>C , CM000679.2:g.63497235T>C	GRCh38
NC_000017.10:g.61574596T>C , CM000679.1:g.61574596T>C	GRCh37
NC_000017.9:g.58928328T>C	NCBI36
NG_011648.1:g.25163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3790T>C MANE Select	ENSP00000290866.4:p.Phe1264Leu
ENST00000290863.10:c.2068T>C	ENSP00000290863.6:p.Phe690Leu
ENST00000290866.9:c.3790T>C	ENSP00000290866.4:p.Phe1264Leu
ENST00000413513.7:c.1945T>C	ENSP00000392247.3:p.Phe649Leu
ENST00000428043.5:c.*212T>C	ENSP00000397593.2:n.*212T>C
ENST00000577647.2:c.1969+250T>C	ENSP00000464149.1:n.1969+250T>C
ENST00000578839.5:c.*1545T>C	ENSP00000462110.2:n.*1545T>C
ENST00000579314.5:c.*1519T>C	ENSP00000462599.1:n.*1519T>C
NM_000789.3:c.3790T>C	NP_000780.1:p.Phe1264Leu
NM_001178057.1:c.1945T>C	NP_001171528.1:p.Phe649Leu
NM_152830.2:c.2068T>C	NP_690043.1:p.Phe690Leu
XM_005257110.1:c.3241T>C	XP_005257167.1:p.Phe1081Leu
XM_006721737.2:c.2128T>C	XP_006721800.2:p.Phe710Leu
XM_006721737.3:c.2128T>C	XP_006721800.2:p.Phe710Leu
NM_000789.4:c.3790T>C MANE Select	NP_000780.1:p.Phe1264Leu
NM_001178057.2:c.1945T>C	NP_001171528.1:p.Phe649Leu
NM_152830.3:c.2068T>C	NP_690043.1:p.Phe690Leu
NM_001382700.1:c.3223T>C	NP_001369629.1:p.Phe1075Leu
NM_001382701.1:c.2938T>C	NP_001369630.1:p.Phe980Leu
NM_001382702.1:c.1405T>C	NP_001369631.1:p.Phe469Leu
NR_168483.1:n.2168T>C