Canonical Allele Identifier: CA400555932

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563982A>C (hg19) ; chr17:g.63486621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486621A>C , CM000679.2:g.63486621A>C	GRCh38
NC_000017.10:g.61563982A>C , CM000679.1:g.61563982A>C	GRCh37
NC_000017.9:g.58917714A>C	NCBI36
NG_011648.1:g.14549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2123A>C MANE Select	ENSP00000290866.4:p.Asp708Ala
ENST00000290863.10:c.401A>C	ENSP00000290863.6:p.Asp134Ala
ENST00000290866.9:c.2123A>C	ENSP00000290866.4:p.Asp708Ala
ENST00000413513.7:c.401A>C	ENSP00000392247.3:p.Asp134Ala
ENST00000428043.5:c.2123A>C	ENSP00000397593.2:p.Asp708Ala
ENST00000577647.2:c.401A>C	ENSP00000464149.1:p.Asp134Ala
ENST00000578839.5:c.*193A>C	ENSP00000462110.2:n.*193A>C
ENST00000579204.1:c.304A>C	ENSP00000464629.1:n.304A>C
ENST00000579314.5:c.401A>C	ENSP00000462599.1:p.Asp134Ala
ENST00000579726.5:c.685A>C
ENST00000582005.5:c.*43A>C	ENSP00000462002.1:n.*43A>C
NM_000789.3:c.2123A>C	NP_000780.1:p.Asp708Ala
NM_001178057.1:c.401A>C	NP_001171528.1:p.Asp134Ala
NM_152830.2:c.401A>C	NP_690043.1:p.Asp134Ala
XM_005257110.1:c.1574A>C	XP_005257167.1:p.Asp525Ala
XM_006721737.2:c.461A>C	XP_006721800.2:p.Asp154Ala
XM_006721737.3:c.461A>C	XP_006721800.2:p.Asp154Ala
NM_000789.4:c.2123A>C MANE Select	NP_000780.1:p.Asp708Ala
NM_001178057.2:c.401A>C	NP_001171528.1:p.Asp134Ala
NM_152830.3:c.401A>C	NP_690043.1:p.Asp134Ala
NM_001382700.1:c.1556A>C	NP_001369629.1:p.Asp519Ala
NM_001382701.1:c.1271A>C	NP_001369630.1:p.Asp424Ala
NM_001382702.1:c.53A>C	NP_001369631.1:p.Asp18Ala
NR_168483.1:n.423A>C