Canonical Allele Identifier: CA400556047

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564000A>C (hg19) ; chr17:g.63486639A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486639A>C , CM000679.2:g.63486639A>C	GRCh38
NC_000017.10:g.61564000A>C , CM000679.1:g.61564000A>C	GRCh37
NC_000017.9:g.58917732A>C	NCBI36
NG_011648.1:g.14567A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2141A>C MANE Select	ENSP00000290866.4:p.Asn714Thr
ENST00000290863.10:c.419A>C	ENSP00000290863.6:p.Asn140Thr
ENST00000290866.9:c.2141A>C	ENSP00000290866.4:p.Asn714Thr
ENST00000413513.7:c.419A>C	ENSP00000392247.3:p.Asn140Thr
ENST00000428043.5:c.2141A>C	ENSP00000397593.2:p.Asn714Thr
ENST00000577647.2:c.419A>C	ENSP00000464149.1:p.Asn140Thr
ENST00000578839.5:c.*211A>C	ENSP00000462110.2:n.*211A>C
ENST00000579204.1:c.322A>C	ENSP00000464629.1:n.322A>C
ENST00000579314.5:c.419A>C	ENSP00000462599.1:p.Asn140Thr
ENST00000579726.5:c.703A>C
ENST00000582005.5:c.*61A>C	ENSP00000462002.1:n.*61A>C
NM_000789.3:c.2141A>C	NP_000780.1:p.Asn714Thr
NM_001178057.1:c.419A>C	NP_001171528.1:p.Asn140Thr
NM_152830.2:c.419A>C	NP_690043.1:p.Asn140Thr
XM_005257110.1:c.1592A>C	XP_005257167.1:p.Asn531Thr
XM_006721737.2:c.479A>C	XP_006721800.2:p.Asn160Thr
XM_006721737.3:c.479A>C	XP_006721800.2:p.Asn160Thr
NM_000789.4:c.2141A>C MANE Select	NP_000780.1:p.Asn714Thr
NM_001178057.2:c.419A>C	NP_001171528.1:p.Asn140Thr
NM_152830.3:c.419A>C	NP_690043.1:p.Asn140Thr
NM_001382700.1:c.1574A>C	NP_001369629.1:p.Asn525Thr
NM_001382701.1:c.1289A>C	NP_001369630.1:p.Asn430Thr
NM_001382702.1:c.71A>C	NP_001369631.1:p.Asn24Thr
NR_168483.1:n.441A>C