Canonical Allele Identifier: CA8700568

Gene: ACE

Linked Data

• dbSNP Id: rs538166970
• ExAC: 17:61574281 G / C
• gnomAD v2: 17-61574281-G-C
• gnomAD v4: 17-63496920-G-C
• MyVariant Identifiers: chr17:g.61574281G>C (hg19) ; chr17:g.63496920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496920G>C , CM000679.2:g.63496920G>C	GRCh38
NC_000017.10:g.61574281G>C , CM000679.1:g.61574281G>C	GRCh37
NC_000017.9:g.58928013G>C	NCBI36
NG_011648.1:g.24848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3626G>C MANE Select	ENSP00000290866.4:p.Arg1209Pro
ENST00000290863.10:c.1904G>C	ENSP00000290863.6:p.Arg635Pro
ENST00000290866.9:c.3626G>C	ENSP00000290866.4:p.Arg1209Pro
ENST00000413513.7:c.1781G>C	ENSP00000392247.3:p.Arg594Pro
ENST00000428043.5:c.3626G>C	ENSP00000397593.2:p.Arg1209Pro
ENST00000577418.5:n.636G>C
ENST00000577647.2:c.1904G>C	ENSP00000464149.1:p.Arg635Pro
ENST00000578839.5:c.*1381G>C	ENSP00000462110.2:n.*1381G>C
ENST00000579314.5:c.*1355G>C	ENSP00000462599.1:n.*1355G>C
ENST00000579409.1:c.313G>C
ENST00000582244.1:n.500G>C
NM_000789.3:c.3626G>C	NP_000780.1:p.Arg1209Pro
NM_001178057.1:c.1781G>C	NP_001171528.1:p.Arg594Pro
NM_152830.2:c.1904G>C	NP_690043.1:p.Arg635Pro
XM_005257110.1:c.3077G>C	XP_005257167.1:p.Arg1026Pro
XM_006721737.2:c.1964G>C	XP_006721800.2:p.Arg655Pro
XM_006721737.3:c.1964G>C	XP_006721800.2:p.Arg655Pro
NM_000789.4:c.3626G>C MANE Select	NP_000780.1:p.Arg1209Pro
NM_001178057.2:c.1781G>C	NP_001171528.1:p.Arg594Pro
NM_152830.3:c.1904G>C	NP_690043.1:p.Arg635Pro
NM_001382700.1:c.3059G>C	NP_001369629.1:p.Arg1020Pro
NM_001382701.1:c.2774G>C	NP_001369630.1:p.Arg925Pro
NM_001382702.1:c.1241G>C	NP_001369631.1:p.Arg414Pro
NR_168483.1:n.2004G>C