Canonical Allele Identifier: CA8700072

Gene: ACE

Linked Data

• dbSNP Id: rs565463716
• ExAC: 17:61566067 G / A
• gnomAD v2: 17-61566067-G-A
• gnomAD v3: 17-63488706-G-A
• gnomAD v4: 17-63488706-G-A
• COSMIC: COSM5757675 ; COSM5757676 ; COSM5757677 ; COSM5757678
• MyVariant Identifiers: chr17:g.61566067G>A (hg19) ; chr17:g.63488706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488706G>A , CM000679.2:g.63488706G>A	GRCh38
NC_000017.10:g.61566067G>A , CM000679.1:g.61566067G>A	GRCh37
NC_000017.9:g.58919799G>A	NCBI36
NG_011648.1:g.16634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2364G>A MANE Select	ENSP00000290866.4:p.Glu788=
ENST00000290863.10:c.642G>A	ENSP00000290863.6:p.Glu214=
ENST00000290866.9:c.2364G>A	ENSP00000290866.4:p.Glu788=
ENST00000413513.7:c.642G>A	ENSP00000392247.3:p.Glu214=
ENST00000428043.5:c.2364G>A	ENSP00000397593.2:p.Glu788=
ENST00000577647.2:c.642G>A	ENSP00000464149.1:p.Glu214=
ENST00000578839.5:c.*434G>A	ENSP00000462110.2:n.*434G>A
ENST00000579204.1:c.623G>A	ENSP00000464629.1:n.623G>A
ENST00000579314.5:c.*93G>A	ENSP00000462599.1:n.*93G>A
ENST00000582005.5:c.*284G>A	ENSP00000462002.1:n.*284G>A
ENST00000582761.1:c.132G>A	ENSP00000462909.1:p.Glu44=
ENST00000584865.5:n.310G>A
NM_000789.3:c.2364G>A	NP_000780.1:p.Glu788=
NM_001178057.1:c.642G>A	NP_001171528.1:p.Glu214=
NM_152830.2:c.642G>A	NP_690043.1:p.Glu214=
XM_005257110.1:c.1815G>A	XP_005257167.1:p.Glu605=
XM_006721737.2:c.702G>A	XP_006721800.2:p.Glu234=
XM_006721737.3:c.702G>A	XP_006721800.2:p.Glu234=
NM_000789.4:c.2364G>A MANE Select	NP_000780.1:p.Glu788=
NM_001178057.2:c.642G>A	NP_001171528.1:p.Glu214=
NM_152830.3:c.642G>A	NP_690043.1:p.Glu214=
NM_001382700.1:c.1797G>A	NP_001369629.1:p.Glu599=
NM_001382701.1:c.1512G>A	NP_001369630.1:p.Glu504=
NM_001382702.1:c.294G>A	NP_001369631.1:p.Glu98=
NR_168483.1:n.742G>A