Canonical Allele Identifier: CA8700058

Gene: ACE

Linked Data

• dbSNP Id: rs747443207
• ExAC: 17:61566016 G / A
• gnomAD v2: 17-61566016-G-A
• gnomAD v3: 17-63488655-G-A
• gnomAD v4: 17-63488655-G-A
• COSMIC: COSM5526153 ; COSM5526154 ; COSM5526155 ; COSM5526156
• MyVariant Identifiers: chr17:g.61566016G>A (hg19) ; chr17:g.63488655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488655G>A , CM000679.2:g.63488655G>A	GRCh38
NC_000017.10:g.61566016G>A , CM000679.1:g.61566016G>A	GRCh37
NC_000017.9:g.58919748G>A	NCBI36
NG_011648.1:g.16583G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2313G>A MANE Select	ENSP00000290866.4:p.Thr771=
ENST00000290863.10:c.591G>A	ENSP00000290863.6:p.Thr197=
ENST00000290866.9:c.2313G>A	ENSP00000290866.4:p.Thr771=
ENST00000413513.7:c.591G>A	ENSP00000392247.3:p.Thr197=
ENST00000428043.5:c.2313G>A	ENSP00000397593.2:p.Thr771=
ENST00000577647.2:c.591G>A	ENSP00000464149.1:p.Thr197=
ENST00000578839.5:c.*383G>A	ENSP00000462110.2:n.*383G>A
ENST00000579204.1:c.572G>A	ENSP00000464629.1:n.572G>A
ENST00000579314.5:c.*42G>A	ENSP00000462599.1:n.*42G>A
ENST00000582005.5:c.*233G>A	ENSP00000462002.1:n.*233G>A
ENST00000582761.1:c.81G>A	ENSP00000462909.1:p.Thr27=
ENST00000584865.5:n.259G>A
NM_000789.3:c.2313G>A	NP_000780.1:p.Thr771=
NM_001178057.1:c.591G>A	NP_001171528.1:p.Thr197=
NM_152830.2:c.591G>A	NP_690043.1:p.Thr197=
XM_005257110.1:c.1764G>A	XP_005257167.1:p.Thr588=
XM_006721737.2:c.651G>A	XP_006721800.2:p.Thr217=
XM_006721737.3:c.651G>A	XP_006721800.2:p.Thr217=
NM_000789.4:c.2313G>A MANE Select	NP_000780.1:p.Thr771=
NM_001178057.2:c.591G>A	NP_001171528.1:p.Thr197=
NM_152830.3:c.591G>A	NP_690043.1:p.Thr197=
NM_001382700.1:c.1746G>A	NP_001369629.1:p.Thr582=
NM_001382701.1:c.1461G>A	NP_001369630.1:p.Thr487=
NM_001382702.1:c.243G>A	NP_001369631.1:p.Thr81=
NR_168483.1:n.691G>A