Canonical Allele Identifier: CA400557806

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566019T>A (hg19) ; chr17:g.63488658T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488658T>A , CM000679.2:g.63488658T>A	GRCh38
NC_000017.10:g.61566019T>A , CM000679.1:g.61566019T>A	GRCh37
NC_000017.9:g.58919751T>A	NCBI36
NG_011648.1:g.16586T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2316T>A MANE Select	ENSP00000290866.4:p.Asn772Lys
ENST00000290863.10:c.594T>A	ENSP00000290863.6:p.Asn198Lys
ENST00000290866.9:c.2316T>A	ENSP00000290866.4:p.Asn772Lys
ENST00000413513.7:c.594T>A	ENSP00000392247.3:p.Asn198Lys
ENST00000428043.5:c.2316T>A	ENSP00000397593.2:p.Asn772Lys
ENST00000577647.2:c.594T>A	ENSP00000464149.1:p.Asn198Lys
ENST00000578839.5:c.*386T>A	ENSP00000462110.2:n.*386T>A
ENST00000579204.1:c.575T>A	ENSP00000464629.1:n.575T>A
ENST00000579314.5:c.*45T>A	ENSP00000462599.1:n.*45T>A
ENST00000582005.5:c.*236T>A	ENSP00000462002.1:n.*236T>A
ENST00000582761.1:c.84T>A	ENSP00000462909.1:p.Asn28Lys
ENST00000584865.5:n.262T>A
NM_000789.3:c.2316T>A	NP_000780.1:p.Asn772Lys
NM_001178057.1:c.594T>A	NP_001171528.1:p.Asn198Lys
NM_152830.2:c.594T>A	NP_690043.1:p.Asn198Lys
XM_005257110.1:c.1767T>A	XP_005257167.1:p.Asn589Lys
XM_006721737.2:c.654T>A	XP_006721800.2:p.Asn218Lys
XM_006721737.3:c.654T>A	XP_006721800.2:p.Asn218Lys
NM_000789.4:c.2316T>A MANE Select	NP_000780.1:p.Asn772Lys
NM_001178057.2:c.594T>A	NP_001171528.1:p.Asn198Lys
NM_152830.3:c.594T>A	NP_690043.1:p.Asn198Lys
NM_001382700.1:c.1749T>A	NP_001369629.1:p.Asn583Lys
NM_001382701.1:c.1464T>A	NP_001369630.1:p.Asn488Lys
NM_001382702.1:c.246T>A	NP_001369631.1:p.Asn82Lys
NR_168483.1:n.694T>A