Canonical Allele Identifier: CA400556909

Gene: ACE

Linked Data

• gnomAD v4: 17-63487056-G-T
• MyVariant Identifiers: chr17:g.61564417G>T (hg19) ; chr17:g.63487056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487056G>T , CM000679.2:g.63487056G>T	GRCh38
NC_000017.10:g.61564417G>T , CM000679.1:g.61564417G>T	GRCh37
NC_000017.9:g.58918149G>T	NCBI36
NG_011648.1:g.14984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2288G>T MANE Select	ENSP00000290866.4:p.Cys763Phe
ENST00000290863.10:c.566G>T	ENSP00000290863.6:p.Cys189Phe
ENST00000290866.9:c.2288G>T	ENSP00000290866.4:p.Cys763Phe
ENST00000413513.7:c.566G>T	ENSP00000392247.3:p.Cys189Phe
ENST00000428043.5:c.2288G>T	ENSP00000397593.2:p.Cys763Phe
ENST00000577647.2:c.566G>T	ENSP00000464149.1:p.Cys189Phe
ENST00000578839.5:c.*358G>T	ENSP00000462110.2:n.*358G>T
ENST00000579204.1:c.469G>T	ENSP00000464629.1:n.469G>T
ENST00000579314.5:c.566G>T	ENSP00000462599.1:p.Cys189Phe
ENST00000579726.5:c.850G>T
ENST00000582005.5:c.*208G>T	ENSP00000462002.1:n.*208G>T
ENST00000582761.1:c.56G>T	ENSP00000462909.1:p.Cys19Phe
ENST00000584865.5:n.234G>T
NM_000789.3:c.2288G>T	NP_000780.1:p.Cys763Phe
NM_001178057.1:c.566G>T	NP_001171528.1:p.Cys189Phe
NM_152830.2:c.566G>T	NP_690043.1:p.Cys189Phe
XM_005257110.1:c.1739G>T	XP_005257167.1:p.Cys580Phe
XM_006721737.2:c.626G>T	XP_006721800.2:p.Cys209Phe
XM_006721737.3:c.626G>T	XP_006721800.2:p.Cys209Phe
NM_000789.4:c.2288G>T MANE Select	NP_000780.1:p.Cys763Phe
NM_001178057.2:c.566G>T	NP_001171528.1:p.Cys189Phe
NM_152830.3:c.566G>T	NP_690043.1:p.Cys189Phe
NM_001382700.1:c.1721G>T	NP_001369629.1:p.Cys574Phe
NM_001382701.1:c.1436G>T	NP_001369630.1:p.Cys479Phe
NM_001382702.1:c.218G>T	NP_001369631.1:p.Cys73Phe
NR_168483.1:n.588G>T