Canonical Allele Identifier: CA8699941

Gene: ACE

Linked Data

• dbSNP Id: rs756018163
• ExAC: 17:61563970 C / T
• gnomAD v4: 17-63486609-C-T
• MyVariant Identifiers: chr17:g.61563970C>T (hg19) ; chr17:g.63486609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486609C>T , CM000679.2:g.63486609C>T	GRCh38
NC_000017.10:g.61563970C>T , CM000679.1:g.61563970C>T	GRCh37
NC_000017.9:g.58917702C>T	NCBI36
NG_011648.1:g.14537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2111C>T MANE Select	ENSP00000290866.4:p.Ala704Val
ENST00000290863.10:c.389C>T	ENSP00000290863.6:p.Ala130Val
ENST00000290866.9:c.2111C>T	ENSP00000290866.4:p.Ala704Val
ENST00000413513.7:c.389C>T	ENSP00000392247.3:p.Ala130Val
ENST00000428043.5:c.2111C>T	ENSP00000397593.2:p.Ala704Val
ENST00000577647.2:c.389C>T	ENSP00000464149.1:p.Ala130Val
ENST00000578839.5:c.*181C>T	ENSP00000462110.2:n.*181C>T
ENST00000579204.1:c.292C>T	ENSP00000464629.1:n.292C>T
ENST00000579314.5:c.389C>T	ENSP00000462599.1:p.Ala130Val
ENST00000579726.5:c.673C>T
ENST00000582005.5:c.*31C>T	ENSP00000462002.1:n.*31C>T
NM_000789.3:c.2111C>T	NP_000780.1:p.Ala704Val
NM_001178057.1:c.389C>T	NP_001171528.1:p.Ala130Val
NM_152830.2:c.389C>T	NP_690043.1:p.Ala130Val
XM_005257110.1:c.1562C>T	XP_005257167.1:p.Ala521Val
XM_006721737.2:c.449C>T	XP_006721800.2:p.Ala150Val
XM_006721737.3:c.449C>T	XP_006721800.2:p.Ala150Val
NM_000789.4:c.2111C>T MANE Select	NP_000780.1:p.Ala704Val
NM_001178057.2:c.389C>T	NP_001171528.1:p.Ala130Val
NM_152830.3:c.389C>T	NP_690043.1:p.Ala130Val
NM_001382700.1:c.1544C>T	NP_001369629.1:p.Ala515Val
NM_001382701.1:c.1259C>T	NP_001369630.1:p.Ala420Val
NM_001382702.1:c.41C>T	NP_001369631.1:p.Ala14Val
NR_168483.1:n.411C>T