Canonical Allele Identifier: CA8700127

Gene: ACE

Linked Data

• dbSNP Id: rs777851729
• ExAC: 17:61566320 A / T
• gnomAD v2: 17-61566320-A-T
• gnomAD v4: 17-63488959-A-T
• MyVariant Identifiers: chr17:g.61566320A>T (hg19) ; chr17:g.63488959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488959A>T , CM000679.2:g.63488959A>T	GRCh38
NC_000017.10:g.61566320A>T , CM000679.1:g.61566320A>T	GRCh37
NC_000017.9:g.58920052A>T	NCBI36
NG_011648.1:g.16887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2468A>T MANE Select	ENSP00000290866.4:p.Asp823Val
ENST00000290863.10:c.746A>T	ENSP00000290863.6:p.Asp249Val
ENST00000290866.9:c.2468A>T	ENSP00000290866.4:p.Asp823Val
ENST00000413513.7:c.746A>T	ENSP00000392247.3:p.Asp249Val
ENST00000428043.5:c.2468A>T	ENSP00000397593.2:p.Asp823Val
ENST00000577647.2:c.746A>T	ENSP00000464149.1:p.Asp249Val
ENST00000578839.5:c.*519+168A>T	ENSP00000462110.2:n.*519+168A>T
ENST00000579204.1:c.727A>T	ENSP00000464629.1:n.727A>T
ENST00000579314.5:c.*197A>T	ENSP00000462599.1:n.*197A>T
ENST00000582005.5:c.*388A>T	ENSP00000462002.1:n.*388A>T
ENST00000582761.1:c.236A>T	ENSP00000462909.1:p.Asp79Val
ENST00000584865.5:n.414A>T
NM_000789.3:c.2468A>T	NP_000780.1:p.Asp823Val
NM_001178057.1:c.746A>T	NP_001171528.1:p.Asp249Val
NM_152830.2:c.746A>T	NP_690043.1:p.Asp249Val
XM_005257110.1:c.1919A>T	XP_005257167.1:p.Asp640Val
XM_006721737.2:c.806A>T	XP_006721800.2:p.Asp269Val
XM_006721737.3:c.806A>T	XP_006721800.2:p.Asp269Val
NM_000789.4:c.2468A>T MANE Select	NP_000780.1:p.Asp823Val
NM_001178057.2:c.746A>T	NP_001171528.1:p.Asp249Val
NM_152830.3:c.746A>T	NP_690043.1:p.Asp249Val
NM_001382700.1:c.1901A>T	NP_001369629.1:p.Asp634Val
NM_001382701.1:c.1616A>T	NP_001369630.1:p.Asp539Val
NM_001382702.1:c.379+168A>T	NP_001369631.1:n.379+168A>T
NR_168483.1:n.846A>T