Canonical Allele Identifier: CA400567546

Gene: ACE

Linked Data

• dbSNP Id: rs2030780027
• gnomAD v3: 17-63496932-A-C
• gnomAD v4: 17-63496932-A-C
• MyVariant Identifiers: chr17:g.61574293A>C (hg19) ; chr17:g.63496932A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496932A>C , CM000679.2:g.63496932A>C	GRCh38
NC_000017.10:g.61574293A>C , CM000679.1:g.61574293A>C	GRCh37
NC_000017.9:g.58928025A>C	NCBI36
NG_011648.1:g.24860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3638A>C MANE Select	ENSP00000290866.4:p.Glu1213Ala
ENST00000290863.10:c.1916A>C	ENSP00000290863.6:p.Glu639Ala
ENST00000290866.9:c.3638A>C	ENSP00000290866.4:p.Glu1213Ala
ENST00000413513.7:c.1793A>C	ENSP00000392247.3:p.Glu598Ala
ENST00000428043.5:c.3638A>C	ENSP00000397593.2:p.Glu1213Ala
ENST00000577418.5:n.648A>C
ENST00000577647.2:c.1916A>C	ENSP00000464149.1:p.Glu639Ala
ENST00000578839.5:c.*1393A>C	ENSP00000462110.2:n.*1393A>C
ENST00000579314.5:c.*1367A>C	ENSP00000462599.1:n.*1367A>C
ENST00000579409.1:c.325A>C
ENST00000582244.1:n.512A>C
NM_000789.3:c.3638A>C	NP_000780.1:p.Glu1213Ala
NM_001178057.1:c.1793A>C	NP_001171528.1:p.Glu598Ala
NM_152830.2:c.1916A>C	NP_690043.1:p.Glu639Ala
XM_005257110.1:c.3089A>C	XP_005257167.1:p.Glu1030Ala
XM_006721737.2:c.1976A>C	XP_006721800.2:p.Glu659Ala
XM_006721737.3:c.1976A>C	XP_006721800.2:p.Glu659Ala
NM_000789.4:c.3638A>C MANE Select	NP_000780.1:p.Glu1213Ala
NM_001178057.2:c.1793A>C	NP_001171528.1:p.Glu598Ala
NM_152830.3:c.1916A>C	NP_690043.1:p.Glu639Ala
NM_001382700.1:c.3071A>C	NP_001369629.1:p.Glu1024Ala
NM_001382701.1:c.2786A>C	NP_001369630.1:p.Glu929Ala
NM_001382702.1:c.1253A>C	NP_001369631.1:p.Glu418Ala
NR_168483.1:n.2016A>C