Canonical Allele Identifier: CA400568811

Gene: ACE

Linked Data

• gnomAD v4: 17-63497225-G-T
• MyVariant Identifiers: chr17:g.61574586G>T (hg19) ; chr17:g.63497225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497225G>T , CM000679.2:g.63497225G>T	GRCh38
NC_000017.10:g.61574586G>T , CM000679.1:g.61574586G>T	GRCh37
NC_000017.9:g.58928318G>T	NCBI36
NG_011648.1:g.25153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3780G>T MANE Select	ENSP00000290866.4:p.Trp1260Cys
ENST00000290863.10:c.2058G>T	ENSP00000290863.6:p.Trp686Cys
ENST00000290866.9:c.3780G>T	ENSP00000290866.4:p.Trp1260Cys
ENST00000413513.7:c.1935G>T	ENSP00000392247.3:p.Trp645Cys
ENST00000428043.5:c.*202G>T	ENSP00000397593.2:n.*202G>T
ENST00000577647.2:c.1969+240G>T	ENSP00000464149.1:n.1969+240G>T
ENST00000578839.5:c.*1535G>T	ENSP00000462110.2:n.*1535G>T
ENST00000579314.5:c.*1509G>T	ENSP00000462599.1:n.*1509G>T
NM_000789.3:c.3780G>T	NP_000780.1:p.Trp1260Cys
NM_001178057.1:c.1935G>T	NP_001171528.1:p.Trp645Cys
NM_152830.2:c.2058G>T	NP_690043.1:p.Trp686Cys
XM_005257110.1:c.3231G>T	XP_005257167.1:p.Trp1077Cys
XM_006721737.2:c.2118G>T	XP_006721800.2:p.Trp706Cys
XM_006721737.3:c.2118G>T	XP_006721800.2:p.Trp706Cys
NM_000789.4:c.3780G>T MANE Select	NP_000780.1:p.Trp1260Cys
NM_001178057.2:c.1935G>T	NP_001171528.1:p.Trp645Cys
NM_152830.3:c.2058G>T	NP_690043.1:p.Trp686Cys
NM_001382700.1:c.3213G>T	NP_001369629.1:p.Trp1071Cys
NM_001382701.1:c.2928G>T	NP_001369630.1:p.Trp976Cys
NM_001382702.1:c.1395G>T	NP_001369631.1:p.Trp465Cys
NR_168483.1:n.2158G>T