Canonical Allele Identifier: CA400569028

Gene: ACE

Linked Data

• gnomAD v4: 17-63497262-A-C
• MyVariant Identifiers: chr17:g.61574623A>C (hg19) ; chr17:g.63497262A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497262A>C , CM000679.2:g.63497262A>C	GRCh38
NC_000017.10:g.61574623A>C , CM000679.1:g.61574623A>C	GRCh37
NC_000017.9:g.58928355A>C	NCBI36
NG_011648.1:g.25190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3817A>C MANE Select	ENSP00000290866.4:p.Thr1273Pro
ENST00000290863.10:c.2095A>C	ENSP00000290863.6:p.Thr699Pro
ENST00000290866.9:c.3817A>C	ENSP00000290866.4:p.Thr1273Pro
ENST00000413513.7:c.1972A>C	ENSP00000392247.3:p.Thr658Pro
ENST00000428043.5:c.*239A>C	ENSP00000397593.2:n.*239A>C
ENST00000577647.2:c.1969+277A>C	ENSP00000464149.1:n.1969+277A>C
ENST00000578839.5:c.*1572A>C	ENSP00000462110.2:n.*1572A>C
ENST00000579314.5:c.*1546A>C	ENSP00000462599.1:n.*1546A>C
NM_000789.3:c.3817A>C	NP_000780.1:p.Thr1273Pro
NM_001178057.1:c.1972A>C	NP_001171528.1:p.Thr658Pro
NM_152830.2:c.2095A>C	NP_690043.1:p.Thr699Pro
XM_005257110.1:c.3268A>C	XP_005257167.1:p.Thr1090Pro
XM_006721737.2:c.2155A>C	XP_006721800.2:p.Thr719Pro
XM_006721737.3:c.2155A>C	XP_006721800.2:p.Thr719Pro
NM_000789.4:c.3817A>C MANE Select	NP_000780.1:p.Thr1273Pro
NM_001178057.2:c.1972A>C	NP_001171528.1:p.Thr658Pro
NM_152830.3:c.2095A>C	NP_690043.1:p.Thr699Pro
NM_001382700.1:c.3250A>C	NP_001369629.1:p.Thr1084Pro
NM_001382701.1:c.2965A>C	NP_001369630.1:p.Thr989Pro
NM_001382702.1:c.1432A>C	NP_001369631.1:p.Thr478Pro
NR_168483.1:n.2195A>C