Canonical Allele Identifier: CA400556791

Gene: ACE

Linked Data

• gnomAD v4: 17-63487031-A-C
• MyVariant Identifiers: chr17:g.61564392A>C (hg19) ; chr17:g.63487031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487031A>C , CM000679.2:g.63487031A>C	GRCh38
NC_000017.10:g.61564392A>C , CM000679.1:g.61564392A>C	GRCh37
NC_000017.9:g.58918124A>C	NCBI36
NG_011648.1:g.14959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2263A>C MANE Select	ENSP00000290866.4:p.Thr755Pro
ENST00000290863.10:c.541A>C	ENSP00000290863.6:p.Thr181Pro
ENST00000290866.9:c.2263A>C	ENSP00000290866.4:p.Thr755Pro
ENST00000413513.7:c.541A>C	ENSP00000392247.3:p.Thr181Pro
ENST00000428043.5:c.2263A>C	ENSP00000397593.2:p.Thr755Pro
ENST00000577647.2:c.541A>C	ENSP00000464149.1:p.Thr181Pro
ENST00000578839.5:c.*333A>C	ENSP00000462110.2:n.*333A>C
ENST00000579204.1:c.444A>C	ENSP00000464629.1:n.444A>C
ENST00000579314.5:c.541A>C	ENSP00000462599.1:p.Thr181Pro
ENST00000579726.5:c.825A>C
ENST00000582005.5:c.*183A>C	ENSP00000462002.1:n.*183A>C
ENST00000582761.1:c.31A>C	ENSP00000462909.1:p.Thr11Pro
ENST00000584865.5:n.209A>C
NM_000789.3:c.2263A>C	NP_000780.1:p.Thr755Pro
NM_001178057.1:c.541A>C	NP_001171528.1:p.Thr181Pro
NM_152830.2:c.541A>C	NP_690043.1:p.Thr181Pro
XM_005257110.1:c.1714A>C	XP_005257167.1:p.Thr572Pro
XM_006721737.2:c.601A>C	XP_006721800.2:p.Thr201Pro
XM_006721737.3:c.601A>C	XP_006721800.2:p.Thr201Pro
NM_000789.4:c.2263A>C MANE Select	NP_000780.1:p.Thr755Pro
NM_001178057.2:c.541A>C	NP_001171528.1:p.Thr181Pro
NM_152830.3:c.541A>C	NP_690043.1:p.Thr181Pro
NM_001382700.1:c.1696A>C	NP_001369629.1:p.Thr566Pro
NM_001382701.1:c.1411A>C	NP_001369630.1:p.Thr471Pro
NM_001382702.1:c.193A>C	NP_001369631.1:p.Thr65Pro
NR_168483.1:n.563A>C