Canonical Allele Identifier: CA400556059

Gene: ACE

Linked Data

• gnomAD v4: 17-63486641-A-C
• MyVariant Identifiers: chr17:g.61564002A>C (hg19) ; chr17:g.63486641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486641A>C , CM000679.2:g.63486641A>C	GRCh38
NC_000017.10:g.61564002A>C , CM000679.1:g.61564002A>C	GRCh37
NC_000017.9:g.58917734A>C	NCBI36
NG_011648.1:g.14569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2143A>C MANE Select	ENSP00000290866.4:p.Thr715Pro
ENST00000290863.10:c.421A>C	ENSP00000290863.6:p.Thr141Pro
ENST00000290866.9:c.2143A>C	ENSP00000290866.4:p.Thr715Pro
ENST00000413513.7:c.421A>C	ENSP00000392247.3:p.Thr141Pro
ENST00000428043.5:c.2143A>C	ENSP00000397593.2:p.Thr715Pro
ENST00000577647.2:c.421A>C	ENSP00000464149.1:p.Thr141Pro
ENST00000578839.5:c.*213A>C	ENSP00000462110.2:n.*213A>C
ENST00000579204.1:c.324A>C	ENSP00000464629.1:n.324A>C
ENST00000579314.5:c.421A>C	ENSP00000462599.1:p.Thr141Pro
ENST00000579726.5:c.705A>C
ENST00000582005.5:c.*63A>C	ENSP00000462002.1:n.*63A>C
NM_000789.3:c.2143A>C	NP_000780.1:p.Thr715Pro
NM_001178057.1:c.421A>C	NP_001171528.1:p.Thr141Pro
NM_152830.2:c.421A>C	NP_690043.1:p.Thr141Pro
XM_005257110.1:c.1594A>C	XP_005257167.1:p.Thr532Pro
XM_006721737.2:c.481A>C	XP_006721800.2:p.Thr161Pro
XM_006721737.3:c.481A>C	XP_006721800.2:p.Thr161Pro
NM_000789.4:c.2143A>C MANE Select	NP_000780.1:p.Thr715Pro
NM_001178057.2:c.421A>C	NP_001171528.1:p.Thr141Pro
NM_152830.3:c.421A>C	NP_690043.1:p.Thr141Pro
NM_001382700.1:c.1576A>C	NP_001369629.1:p.Thr526Pro
NM_001382701.1:c.1291A>C	NP_001369630.1:p.Thr431Pro
NM_001382702.1:c.73A>C	NP_001369631.1:p.Thr25Pro
NR_168483.1:n.443A>C