Canonical Allele Identifier: CA400569358

Gene: ACE

Linked Data

• dbSNP Id: rs767828019
• gnomAD v2: 17-61574663-G-C
• gnomAD v4: 17-63497302-G-C
• MyVariant Identifiers: chr17:g.61574663G>C (hg19) ; chr17:g.63497302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497302G>C , CM000679.2:g.63497302G>C	GRCh38
NC_000017.10:g.61574663G>C , CM000679.1:g.61574663G>C	GRCh37
NC_000017.9:g.58928395G>C	NCBI36
NG_011648.1:g.25230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3857G>C MANE Select	ENSP00000290866.4:p.Arg1286Pro
ENST00000290863.10:c.2135G>C	ENSP00000290863.6:p.Arg712Pro
ENST00000290866.9:c.3857G>C	ENSP00000290866.4:p.Arg1286Pro
ENST00000413513.7:c.2012G>C	ENSP00000392247.3:p.Arg671Pro
ENST00000428043.5:c.*279G>C	ENSP00000397593.2:n.*279G>C
ENST00000577647.2:c.1969+317G>C	ENSP00000464149.1:n.1969+317G>C
ENST00000578839.5:c.*1612G>C	ENSP00000462110.2:n.*1612G>C
ENST00000579314.5:c.*1586G>C	ENSP00000462599.1:n.*1586G>C
NM_000789.3:c.3857G>C	NP_000780.1:p.Arg1286Pro
NM_001178057.1:c.2012G>C	NP_001171528.1:p.Arg671Pro
NM_152830.2:c.2135G>C	NP_690043.1:p.Arg712Pro
XM_005257110.1:c.3308G>C	XP_005257167.1:p.Arg1103Pro
XM_006721737.2:c.2195G>C	XP_006721800.2:p.Arg732Pro
XM_006721737.3:c.2195G>C	XP_006721800.2:p.Arg732Pro
NM_000789.4:c.3857G>C MANE Select	NP_000780.1:p.Arg1286Pro
NM_001178057.2:c.2012G>C	NP_001171528.1:p.Arg671Pro
NM_152830.3:c.2135G>C	NP_690043.1:p.Arg712Pro
NM_001382700.1:c.3290G>C	NP_001369629.1:p.Arg1097Pro
NM_001382701.1:c.3005G>C	NP_001369630.1:p.Arg1002Pro
NM_001382702.1:c.1472G>C	NP_001369631.1:p.Arg491Pro
NR_168483.1:n.2235G>C