Canonical Allele Identifier: CA400557803

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566018A>C (hg19) ; chr17:g.63488657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488657A>C , CM000679.2:g.63488657A>C	GRCh38
NC_000017.10:g.61566018A>C , CM000679.1:g.61566018A>C	GRCh37
NC_000017.9:g.58919750A>C	NCBI36
NG_011648.1:g.16585A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2315A>C MANE Select	ENSP00000290866.4:p.Asn772Thr
ENST00000290863.10:c.593A>C	ENSP00000290863.6:p.Asn198Thr
ENST00000290866.9:c.2315A>C	ENSP00000290866.4:p.Asn772Thr
ENST00000413513.7:c.593A>C	ENSP00000392247.3:p.Asn198Thr
ENST00000428043.5:c.2315A>C	ENSP00000397593.2:p.Asn772Thr
ENST00000577647.2:c.593A>C	ENSP00000464149.1:p.Asn198Thr
ENST00000578839.5:c.*385A>C	ENSP00000462110.2:n.*385A>C
ENST00000579204.1:c.574A>C	ENSP00000464629.1:n.574A>C
ENST00000579314.5:c.*44A>C	ENSP00000462599.1:n.*44A>C
ENST00000582005.5:c.*235A>C	ENSP00000462002.1:n.*235A>C
ENST00000582761.1:c.83A>C	ENSP00000462909.1:p.Asn28Thr
ENST00000584865.5:n.261A>C
NM_000789.3:c.2315A>C	NP_000780.1:p.Asn772Thr
NM_001178057.1:c.593A>C	NP_001171528.1:p.Asn198Thr
NM_152830.2:c.593A>C	NP_690043.1:p.Asn198Thr
XM_005257110.1:c.1766A>C	XP_005257167.1:p.Asn589Thr
XM_006721737.2:c.653A>C	XP_006721800.2:p.Asn218Thr
XM_006721737.3:c.653A>C	XP_006721800.2:p.Asn218Thr
NM_000789.4:c.2315A>C MANE Select	NP_000780.1:p.Asn772Thr
NM_001178057.2:c.593A>C	NP_001171528.1:p.Asn198Thr
NM_152830.3:c.593A>C	NP_690043.1:p.Asn198Thr
NM_001382700.1:c.1748A>C	NP_001369629.1:p.Asn583Thr
NM_001382701.1:c.1463A>C	NP_001369630.1:p.Asn488Thr
NM_001382702.1:c.245A>C	NP_001369631.1:p.Asn82Thr
NR_168483.1:n.693A>C