Canonical Allele Identifier: CA400556356

Gene: ACE

Linked Data

• gnomAD v4: 17-63486699-C-T
• MyVariant Identifiers: chr17:g.61564060C>T (hg19) ; chr17:g.63486699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486699C>T , CM000679.2:g.63486699C>T	GRCh38
NC_000017.10:g.61564060C>T , CM000679.1:g.61564060C>T	GRCh37
NC_000017.9:g.58917792C>T	NCBI36
NG_011648.1:g.14627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2201C>T MANE Select	ENSP00000290866.4:p.Ala734Val
ENST00000290863.10:c.479C>T	ENSP00000290863.6:p.Ala160Val
ENST00000290866.9:c.2201C>T	ENSP00000290866.4:p.Ala734Val
ENST00000413513.7:c.479C>T	ENSP00000392247.3:p.Ala160Val
ENST00000428043.5:c.2201C>T	ENSP00000397593.2:p.Ala734Val
ENST00000577647.2:c.479C>T	ENSP00000464149.1:p.Ala160Val
ENST00000578839.5:c.*271C>T	ENSP00000462110.2:n.*271C>T
ENST00000579204.1:c.382C>T	ENSP00000464629.1:n.382C>T
ENST00000579314.5:c.479C>T	ENSP00000462599.1:p.Ala160Val
ENST00000579726.5:c.763C>T
ENST00000582005.5:c.*121C>T	ENSP00000462002.1:n.*121C>T
NM_000789.3:c.2201C>T	NP_000780.1:p.Ala734Val
NM_001178057.1:c.479C>T	NP_001171528.1:p.Ala160Val
NM_152830.2:c.479C>T	NP_690043.1:p.Ala160Val
XM_005257110.1:c.1652C>T	XP_005257167.1:p.Ala551Val
XM_006721737.2:c.539C>T	XP_006721800.2:p.Ala180Val
XM_006721737.3:c.539C>T	XP_006721800.2:p.Ala180Val
NM_000789.4:c.2201C>T MANE Select	NP_000780.1:p.Ala734Val
NM_001178057.2:c.479C>T	NP_001171528.1:p.Ala160Val
NM_152830.3:c.479C>T	NP_690043.1:p.Ala160Val
NM_001382700.1:c.1634C>T	NP_001369629.1:p.Ala545Val
NM_001382701.1:c.1349C>T	NP_001369630.1:p.Ala450Val
NM_001382702.1:c.131C>T	NP_001369631.1:p.Ala44Val
NR_168483.1:n.501C>T