Canonical Allele Identifier: CA400557866

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566047G>A (hg19) ; chr17:g.63488686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488686G>A , CM000679.2:g.63488686G>A	GRCh38
NC_000017.10:g.61566047G>A , CM000679.1:g.61566047G>A	GRCh37
NC_000017.9:g.58919779G>A	NCBI36
NG_011648.1:g.16614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2344G>A MANE Select	ENSP00000290866.4:p.Asp782Asn
ENST00000290863.10:c.622G>A	ENSP00000290863.6:p.Asp208Asn
ENST00000290866.9:c.2344G>A	ENSP00000290866.4:p.Asp782Asn
ENST00000413513.7:c.622G>A	ENSP00000392247.3:p.Asp208Asn
ENST00000428043.5:c.2344G>A	ENSP00000397593.2:p.Asp782Asn
ENST00000577647.2:c.622G>A	ENSP00000464149.1:p.Asp208Asn
ENST00000578839.5:c.*414G>A	ENSP00000462110.2:n.*414G>A
ENST00000579204.1:c.603G>A	ENSP00000464629.1:n.603G>A
ENST00000579314.5:c.*73G>A	ENSP00000462599.1:n.*73G>A
ENST00000582005.5:c.*264G>A	ENSP00000462002.1:n.*264G>A
ENST00000582761.1:c.112G>A	ENSP00000462909.1:p.Asp38Asn
ENST00000584865.5:n.290G>A
NM_000789.3:c.2344G>A	NP_000780.1:p.Asp782Asn
NM_001178057.1:c.622G>A	NP_001171528.1:p.Asp208Asn
NM_152830.2:c.622G>A	NP_690043.1:p.Asp208Asn
XM_005257110.1:c.1795G>A	XP_005257167.1:p.Asp599Asn
XM_006721737.2:c.682G>A	XP_006721800.2:p.Asp228Asn
XM_006721737.3:c.682G>A	XP_006721800.2:p.Asp228Asn
NM_000789.4:c.2344G>A MANE Select	NP_000780.1:p.Asp782Asn
NM_001178057.2:c.622G>A	NP_001171528.1:p.Asp208Asn
NM_152830.3:c.622G>A	NP_690043.1:p.Asp208Asn
NM_001382700.1:c.1777G>A	NP_001369629.1:p.Asp593Asn
NM_001382701.1:c.1492G>A	NP_001369630.1:p.Asp498Asn
NM_001382702.1:c.274G>A	NP_001369631.1:p.Asp92Asn
NR_168483.1:n.722G>A