Canonical Allele Identifier: CA400556983

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564434G>C (hg19) ; chr17:g.63487073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487073G>C , CM000679.2:g.63487073G>C	GRCh38
NC_000017.10:g.61564434G>C , CM000679.1:g.61564434G>C	GRCh37
NC_000017.9:g.58918166G>C	NCBI36
NG_011648.1:g.15001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2305G>C MANE Select	ENSP00000290866.4:p.Asp769His
ENST00000290863.10:c.583G>C	ENSP00000290863.6:p.Asp195His
ENST00000290866.9:c.2305G>C	ENSP00000290866.4:p.Asp769His
ENST00000413513.7:c.583G>C	ENSP00000392247.3:p.Asp195His
ENST00000428043.5:c.2305G>C	ENSP00000397593.2:p.Asp769His
ENST00000577647.2:c.583G>C	ENSP00000464149.1:p.Asp195His
ENST00000578839.5:c.*375G>C	ENSP00000462110.2:n.*375G>C
ENST00000579204.1:c.486G>C	ENSP00000464629.1:n.486G>C
ENST00000579314.5:c.583G>C	ENSP00000462599.1:p.Ala195Pro
ENST00000579726.5:c.867G>C
ENST00000582005.5:c.*225G>C	ENSP00000462002.1:n.*225G>C
ENST00000582761.1:c.73G>C	ENSP00000462909.1:p.Asp25His
ENST00000584865.5:n.251G>C
NM_000789.3:c.2305G>C	NP_000780.1:p.Asp769His
NM_001178057.1:c.583G>C	NP_001171528.1:p.Asp195His
NM_152830.2:c.583G>C	NP_690043.1:p.Asp195His
XM_005257110.1:c.1756G>C	XP_005257167.1:p.Asp586His
XM_006721737.2:c.643G>C	XP_006721800.2:p.Asp215His
XM_006721737.3:c.643G>C	XP_006721800.2:p.Asp215His
NM_000789.4:c.2305G>C MANE Select	NP_000780.1:p.Asp769His
NM_001178057.2:c.583G>C	NP_001171528.1:p.Asp195His
NM_152830.3:c.583G>C	NP_690043.1:p.Asp195His
NM_001382700.1:c.1738G>C	NP_001369629.1:p.Asp580His
NM_001382701.1:c.1453G>C	NP_001369630.1:p.Asp485His
NM_001382702.1:c.235G>C	NP_001369631.1:p.Asp79His
NR_168483.1:n.605G>C