Canonical Allele Identifier: CA400556857

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564407A>C (hg19) ; chr17:g.63487046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487046A>C , CM000679.2:g.63487046A>C	GRCh38
NC_000017.10:g.61564407A>C , CM000679.1:g.61564407A>C	GRCh37
NC_000017.9:g.58918139A>C	NCBI36
NG_011648.1:g.14974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2278A>C MANE Select	ENSP00000290866.4:p.Asn760His
ENST00000290863.10:c.556A>C	ENSP00000290863.6:p.Asn186His
ENST00000290866.9:c.2278A>C	ENSP00000290866.4:p.Asn760His
ENST00000413513.7:c.556A>C	ENSP00000392247.3:p.Asn186His
ENST00000428043.5:c.2278A>C	ENSP00000397593.2:p.Asn760His
ENST00000577647.2:c.556A>C	ENSP00000464149.1:p.Asn186His
ENST00000578839.5:c.*348A>C	ENSP00000462110.2:n.*348A>C
ENST00000579204.1:c.459A>C	ENSP00000464629.1:n.459A>C
ENST00000579314.5:c.556A>C	ENSP00000462599.1:p.Asn186His
ENST00000579726.5:c.840A>C
ENST00000582005.5:c.*198A>C	ENSP00000462002.1:n.*198A>C
ENST00000582761.1:c.46A>C	ENSP00000462909.1:p.Asn16His
ENST00000584865.5:n.224A>C
NM_000789.3:c.2278A>C	NP_000780.1:p.Asn760His
NM_001178057.1:c.556A>C	NP_001171528.1:p.Asn186His
NM_152830.2:c.556A>C	NP_690043.1:p.Asn186His
XM_005257110.1:c.1729A>C	XP_005257167.1:p.Asn577His
XM_006721737.2:c.616A>C	XP_006721800.2:p.Asn206His
XM_006721737.3:c.616A>C	XP_006721800.2:p.Asn206His
NM_000789.4:c.2278A>C MANE Select	NP_000780.1:p.Asn760His
NM_001178057.2:c.556A>C	NP_001171528.1:p.Asn186His
NM_152830.3:c.556A>C	NP_690043.1:p.Asn186His
NM_001382700.1:c.1711A>C	NP_001369629.1:p.Asn571His
NM_001382701.1:c.1426A>C	NP_001369630.1:p.Asn476His
NM_001382702.1:c.208A>C	NP_001369631.1:p.Asn70His
NR_168483.1:n.578A>C