Canonical Allele Identifier: CA400566516

Gene: ACE

Linked Data

• dbSNP Id: rs2030766252
• gnomAD v3: 17-63496803-C-T
• gnomAD v4: 17-63496803-C-T
• MyVariant Identifiers: chr17:g.61574164C>T (hg19) ; chr17:g.63496803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496803C>T , CM000679.2:g.63496803C>T	GRCh38
NC_000017.10:g.61574164C>T , CM000679.1:g.61574164C>T	GRCh37
NC_000017.9:g.58927896C>T	NCBI36
NG_011648.1:g.24731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3509C>T MANE Select	ENSP00000290866.4:p.Ala1170Val
ENST00000290863.10:c.1787C>T	ENSP00000290863.6:p.Ala596Val
ENST00000290866.9:c.3509C>T	ENSP00000290866.4:p.Ala1170Val
ENST00000413513.7:c.1664C>T	ENSP00000392247.3:p.Ala555Val
ENST00000428043.5:c.3509C>T	ENSP00000397593.2:p.Ala1170Val
ENST00000577418.5:n.519C>T
ENST00000577647.2:c.1787C>T	ENSP00000464149.1:p.Ala596Val
ENST00000578839.5:c.*1264C>T	ENSP00000462110.2:n.*1264C>T
ENST00000579314.5:c.*1238C>T	ENSP00000462599.1:n.*1238C>T
ENST00000579409.1:c.196C>T
ENST00000582244.1:n.383C>T
NM_000789.3:c.3509C>T	NP_000780.1:p.Ala1170Val
NM_001178057.1:c.1664C>T	NP_001171528.1:p.Ala555Val
NM_152830.2:c.1787C>T	NP_690043.1:p.Ala596Val
XM_005257110.1:c.2960C>T	XP_005257167.1:p.Ala987Val
XM_006721737.2:c.1847C>T	XP_006721800.2:p.Ala616Val
XM_006721737.3:c.1847C>T	XP_006721800.2:p.Ala616Val
NM_000789.4:c.3509C>T MANE Select	NP_000780.1:p.Ala1170Val
NM_001178057.2:c.1664C>T	NP_001171528.1:p.Ala555Val
NM_152830.3:c.1787C>T	NP_690043.1:p.Ala596Val
NM_001382700.1:c.2942C>T	NP_001369629.1:p.Ala981Val
NM_001382701.1:c.2657C>T	NP_001369630.1:p.Ala886Val
NM_001382702.1:c.1124C>T	NP_001369631.1:p.Ala375Val
NR_168483.1:n.1887C>T