Canonical Allele Identifier: CA8699956

Gene: ACE

Linked Data

• ClinVar Variation Id: 790184
• ClinVar RCV Id: RCV000972924 ; RCV001128243 ; RCV004553498
• dbSNP Id: rs35553988
• ExAC: 17:61564046 G / T
• gnomAD v2: 17-61564046-G-T
• gnomAD v3: 17-63486685-G-T
• gnomAD v4: 17-63486685-G-T
• MyVariant Identifiers: chr17:g.61564046G>T (hg19) ; chr17:g.63486685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486685G>T , CM000679.2:g.63486685G>T	GRCh38
NC_000017.10:g.61564046G>T , CM000679.1:g.61564046G>T	GRCh37
NC_000017.9:g.58917778G>T	NCBI36
NG_011648.1:g.14613G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2187G>T MANE Select	ENSP00000290866.4:p.Arg729=
ENST00000290863.10:c.465G>T	ENSP00000290863.6:p.Arg155=
ENST00000290866.9:c.2187G>T	ENSP00000290866.4:p.Arg729=
ENST00000413513.7:c.465G>T	ENSP00000392247.3:p.Arg155=
ENST00000428043.5:c.2187G>T	ENSP00000397593.2:p.Arg729=
ENST00000577647.2:c.465G>T	ENSP00000464149.1:p.Arg155=
ENST00000578839.5:c.*257G>T	ENSP00000462110.2:n.*257G>T
ENST00000579204.1:c.368G>T	ENSP00000464629.1:n.368G>T
ENST00000579314.5:c.465G>T	ENSP00000462599.1:p.Arg155=
ENST00000579726.5:c.749G>T
ENST00000582005.5:c.*107G>T	ENSP00000462002.1:n.*107G>T
NM_000789.3:c.2187G>T	NP_000780.1:p.Arg729=
NM_001178057.1:c.465G>T	NP_001171528.1:p.Arg155=
NM_152830.2:c.465G>T	NP_690043.1:p.Arg155=
XM_005257110.1:c.1638G>T	XP_005257167.1:p.Arg546=
XM_006721737.2:c.525G>T	XP_006721800.2:p.Arg175=
XM_006721737.3:c.525G>T	XP_006721800.2:p.Arg175=
NM_000789.4:c.2187G>T MANE Select	NP_000780.1:p.Arg729=
NM_001178057.2:c.465G>T	NP_001171528.1:p.Arg155=
NM_152830.3:c.465G>T	NP_690043.1:p.Arg155=
NM_001382700.1:c.1620G>T	NP_001369629.1:p.Arg540=
NM_001382701.1:c.1335G>T	NP_001369630.1:p.Arg445=
NM_001382702.1:c.117G>T	NP_001369631.1:p.Arg39=
NR_168483.1:n.487G>T