Canonical Allele Identifier: CA8700071

Gene: ACE

Linked Data

• dbSNP Id: rs565463716
• ExAC: 17:61566067 G / T
• gnomAD v3: 17-63488706-G-T
• gnomAD v4: 17-63488706-G-T
• MyVariant Identifiers: chr17:g.61566067G>T (hg19) ; chr17:g.63488706G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2364G>T MANE Select	ENSP00000290866.4:p.Glu788Asp
ENST00000290863.10:c.642G>T	ENSP00000290863.6:p.Glu214Asp
ENST00000290866.9:c.2364G>T	ENSP00000290866.4:p.Glu788Asp
ENST00000413513.7:c.642G>T	ENSP00000392247.3:p.Glu214Asp
ENST00000428043.5:c.2364G>T	ENSP00000397593.2:p.Glu788Asp
ENST00000577647.2:c.642G>T	ENSP00000464149.1:p.Glu214Asp
ENST00000578839.5:c.*434G>T	ENSP00000462110.2:n.*434G>T
ENST00000579204.1:c.623G>T	ENSP00000464629.1:n.623G>T
ENST00000579314.5:c.*93G>T	ENSP00000462599.1:n.*93G>T
ENST00000582005.5:c.*284G>T	ENSP00000462002.1:n.*284G>T
ENST00000582761.1:c.132G>T	ENSP00000462909.1:p.Glu44Asp
ENST00000584865.5:n.310G>T
NM_000789.3:c.2364G>T	NP_000780.1:p.Glu788Asp
NM_001178057.1:c.642G>T	NP_001171528.1:p.Glu214Asp
NM_152830.2:c.642G>T	NP_690043.1:p.Glu214Asp
XM_005257110.1:c.1815G>T	XP_005257167.1:p.Glu605Asp
XM_006721737.2:c.702G>T	XP_006721800.2:p.Glu234Asp
XM_006721737.3:c.702G>T	XP_006721800.2:p.Glu234Asp
NM_000789.4:c.2364G>T MANE Select	NP_000780.1:p.Glu788Asp
NM_001178057.2:c.642G>T	NP_001171528.1:p.Glu214Asp
NM_152830.3:c.642G>T	NP_690043.1:p.Glu214Asp
NM_001382700.1:c.1797G>T	NP_001369629.1:p.Glu599Asp
NM_001382701.1:c.1512G>T	NP_001369630.1:p.Glu504Asp
NM_001382702.1:c.294G>T	NP_001369631.1:p.Glu98Asp
NR_168483.1:n.742G>T