Canonical Allele Identifier: CA501187639

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566151T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488790T>C , CM000679.2:g.63488790T>C	GRCh38
NC_000017.10:g.61566151T>C , CM000679.1:g.61566151T>C	GRCh37
NC_000017.9:g.58919883T>C	NCBI36
NG_011648.1:g.16718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2448T>C MANE Select	ENSP00000290866.4:p.Asn816=
ENST00000290863.10:c.726T>C	ENSP00000290863.6:p.Asn242=
ENST00000290866.9:c.2448T>C	ENSP00000290866.4:p.Asn816=
ENST00000413513.7:c.726T>C	ENSP00000392247.3:p.Asn242=
ENST00000428043.5:c.2448T>C	ENSP00000397593.2:p.Asn816=
ENST00000577647.2:c.726T>C	ENSP00000464149.1:p.Asn242=
ENST00000578839.5:c.*518T>C	ENSP00000462110.2:n.*518T>C
ENST00000579204.1:c.707T>C	ENSP00000464629.1:n.707T>C
ENST00000579314.5:c.*177T>C	ENSP00000462599.1:n.*177T>C
ENST00000582005.5:c.*368T>C	ENSP00000462002.1:n.*368T>C
ENST00000582761.1:c.216T>C	ENSP00000462909.1:p.Asn72=
ENST00000584865.5:n.394T>C
NM_000789.3:c.2448T>C	NP_000780.1:p.Asn816=
NM_001178057.1:c.726T>C	NP_001171528.1:p.Asn242=
NM_152830.2:c.726T>C	NP_690043.1:p.Asn242=
XM_005257110.1:c.1899T>C	XP_005257167.1:p.Asn633=
XM_006721737.2:c.786T>C	XP_006721800.2:p.Asn262=
XM_006721737.3:c.786T>C	XP_006721800.2:p.Asn262=
NM_000789.4:c.2448T>C MANE Select	NP_000780.1:p.Asn816=
NM_001178057.2:c.726T>C	NP_001171528.1:p.Asn242=
NM_152830.3:c.726T>C	NP_690043.1:p.Asn242=
NM_001382700.1:c.1881T>C	NP_001369629.1:p.Asn627=
NM_001382701.1:c.1596T>C	NP_001369630.1:p.Asn532=
NM_001382702.1:c.378T>C	NP_001369631.1:p.Asn126=
NR_168483.1:n.826T>C