Canonical Allele Identifier: CA400556819

Gene: ACE

Linked Data

• dbSNP Id: rs1232177858
• gnomAD v2: 17-61564399-G-A
• gnomAD v4: 17-63487038-G-A
• MyVariant Identifiers: chr17:g.61564399G>A (hg19) ; chr17:g.63487038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487038G>A , CM000679.2:g.63487038G>A	GRCh38
NC_000017.10:g.61564399G>A , CM000679.1:g.61564399G>A	GRCh37
NC_000017.9:g.58918131G>A	NCBI36
NG_011648.1:g.14966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2270G>A MANE Select	ENSP00000290866.4:p.Cys757Tyr
ENST00000290863.10:c.548G>A	ENSP00000290863.6:p.Cys183Tyr
ENST00000290866.9:c.2270G>A	ENSP00000290866.4:p.Cys757Tyr
ENST00000413513.7:c.548G>A	ENSP00000392247.3:p.Cys183Tyr
ENST00000428043.5:c.2270G>A	ENSP00000397593.2:p.Cys757Tyr
ENST00000577647.2:c.548G>A	ENSP00000464149.1:p.Cys183Tyr
ENST00000578839.5:c.*340G>A	ENSP00000462110.2:n.*340G>A
ENST00000579204.1:c.451G>A	ENSP00000464629.1:n.451G>A
ENST00000579314.5:c.548G>A	ENSP00000462599.1:p.Cys183Tyr
ENST00000579726.5:c.832G>A
ENST00000582005.5:c.*190G>A	ENSP00000462002.1:n.*190G>A
ENST00000582761.1:c.38G>A	ENSP00000462909.1:p.Cys13Tyr
ENST00000584865.5:n.216G>A
NM_000789.3:c.2270G>A	NP_000780.1:p.Cys757Tyr
NM_001178057.1:c.548G>A	NP_001171528.1:p.Cys183Tyr
NM_152830.2:c.548G>A	NP_690043.1:p.Cys183Tyr
XM_005257110.1:c.1721G>A	XP_005257167.1:p.Cys574Tyr
XM_006721737.2:c.608G>A	XP_006721800.2:p.Cys203Tyr
XM_006721737.3:c.608G>A	XP_006721800.2:p.Cys203Tyr
NM_000789.4:c.2270G>A MANE Select	NP_000780.1:p.Cys757Tyr
NM_001178057.2:c.548G>A	NP_001171528.1:p.Cys183Tyr
NM_152830.3:c.548G>A	NP_690043.1:p.Cys183Tyr
NM_001382700.1:c.1703G>A	NP_001369629.1:p.Cys568Tyr
NM_001382701.1:c.1418G>A	NP_001369630.1:p.Cys473Tyr
NM_001382702.1:c.200G>A	NP_001369631.1:p.Cys67Tyr
NR_168483.1:n.570G>A