Canonical Allele Identifier: CA501185416

Gene: ACE

Linked Data

• gnomAD v4: 17-63487033-T-C
• MyVariant Identifiers: chr17:g.61564394T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487033T>C , CM000679.2:g.63487033T>C	GRCh38
NC_000017.10:g.61564394T>C , CM000679.1:g.61564394T>C	GRCh37
NC_000017.9:g.58918126T>C	NCBI36
NG_011648.1:g.14961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2265T>C MANE Select	ENSP00000290866.4:p.Thr755=
ENST00000290863.10:c.543T>C	ENSP00000290863.6:p.Thr181=
ENST00000290866.9:c.2265T>C	ENSP00000290866.4:p.Thr755=
ENST00000413513.7:c.543T>C	ENSP00000392247.3:p.Thr181=
ENST00000428043.5:c.2265T>C	ENSP00000397593.2:p.Thr755=
ENST00000577647.2:c.543T>C	ENSP00000464149.1:p.Thr181=
ENST00000578839.5:c.*335T>C	ENSP00000462110.2:n.*335T>C
ENST00000579204.1:c.446T>C	ENSP00000464629.1:n.446T>C
ENST00000579314.5:c.543T>C	ENSP00000462599.1:p.Thr181=
ENST00000579726.5:c.827T>C
ENST00000582005.5:c.*185T>C	ENSP00000462002.1:n.*185T>C
ENST00000582761.1:c.33T>C	ENSP00000462909.1:p.Thr11=
ENST00000584865.5:n.211T>C
NM_000789.3:c.2265T>C	NP_000780.1:p.Thr755=
NM_001178057.1:c.543T>C	NP_001171528.1:p.Thr181=
NM_152830.2:c.543T>C	NP_690043.1:p.Thr181=
XM_005257110.1:c.1716T>C	XP_005257167.1:p.Thr572=
XM_006721737.2:c.603T>C	XP_006721800.2:p.Thr201=
XM_006721737.3:c.603T>C	XP_006721800.2:p.Thr201=
NM_000789.4:c.2265T>C MANE Select	NP_000780.1:p.Thr755=
NM_001178057.2:c.543T>C	NP_001171528.1:p.Thr181=
NM_152830.3:c.543T>C	NP_690043.1:p.Thr181=
NM_001382700.1:c.1698T>C	NP_001369629.1:p.Thr566=
NM_001382701.1:c.1413T>C	NP_001369630.1:p.Thr471=
NM_001382702.1:c.195T>C	NP_001369631.1:p.Thr65=
NR_168483.1:n.565T>C