Canonical Allele Identifier: CA400557894

Gene: ACE

Linked Data

• dbSNP Id: rs1568043027
• gnomAD v4: 17-63488699-C-T
• MyVariant Identifiers: chr17:g.61566060C>T (hg19) ; chr17:g.63488699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488699C>T , CM000679.2:g.63488699C>T	GRCh38
NC_000017.10:g.61566060C>T , CM000679.1:g.61566060C>T	GRCh37
NC_000017.9:g.58919792C>T	NCBI36
NG_011648.1:g.16627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2357C>T MANE Select	ENSP00000290866.4:p.Ala786Val
ENST00000290863.10:c.635C>T	ENSP00000290863.6:p.Ala212Val
ENST00000290866.9:c.2357C>T	ENSP00000290866.4:p.Ala786Val
ENST00000413513.7:c.635C>T	ENSP00000392247.3:p.Ala212Val
ENST00000428043.5:c.2357C>T	ENSP00000397593.2:p.Ala786Val
ENST00000577647.2:c.635C>T	ENSP00000464149.1:p.Ala212Val
ENST00000578839.5:c.*427C>T	ENSP00000462110.2:n.*427C>T
ENST00000579204.1:c.616C>T	ENSP00000464629.1:n.616C>T
ENST00000579314.5:c.*86C>T	ENSP00000462599.1:n.*86C>T
ENST00000582005.5:c.*277C>T	ENSP00000462002.1:n.*277C>T
ENST00000582761.1:c.125C>T	ENSP00000462909.1:p.Ala42Val
ENST00000584865.5:n.303C>T
NM_000789.3:c.2357C>T	NP_000780.1:p.Ala786Val
NM_001178057.1:c.635C>T	NP_001171528.1:p.Ala212Val
NM_152830.2:c.635C>T	NP_690043.1:p.Ala212Val
XM_005257110.1:c.1808C>T	XP_005257167.1:p.Ala603Val
XM_006721737.2:c.695C>T	XP_006721800.2:p.Ala232Val
XM_006721737.3:c.695C>T	XP_006721800.2:p.Ala232Val
NM_000789.4:c.2357C>T MANE Select	NP_000780.1:p.Ala786Val
NM_001178057.2:c.635C>T	NP_001171528.1:p.Ala212Val
NM_152830.3:c.635C>T	NP_690043.1:p.Ala212Val
NM_001382700.1:c.1790C>T	NP_001369629.1:p.Ala597Val
NM_001382701.1:c.1505C>T	NP_001369630.1:p.Ala502Val
NM_001382702.1:c.287C>T	NP_001369631.1:p.Ala96Val
NR_168483.1:n.735C>T