Canonical Allele Identifier: CA400568370

Gene: ACE

Linked Data

• gnomAD v4: 17-63497157-C-A
• MyVariant Identifiers: chr17:g.61574518C>A (hg19) ; chr17:g.63497157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497157C>A , CM000679.2:g.63497157C>A	GRCh38
NC_000017.10:g.61574518C>A , CM000679.1:g.61574518C>A	GRCh37
NC_000017.9:g.58928250C>A	NCBI36
NG_011648.1:g.25085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3712C>A MANE Select	ENSP00000290866.4:p.Pro1238Thr
ENST00000290863.10:c.1990C>A	ENSP00000290863.6:p.Pro664Thr
ENST00000290866.9:c.3712C>A	ENSP00000290866.4:p.Pro1238Thr
ENST00000413513.7:c.1867C>A	ENSP00000392247.3:p.Pro623Thr
ENST00000428043.5:c.*134C>A	ENSP00000397593.2:n.*134C>A
ENST00000577418.5:n.722C>A
ENST00000577647.2:c.1969+172C>A	ENSP00000464149.1:n.1969+172C>A
ENST00000578839.5:c.*1467C>A	ENSP00000462110.2:n.*1467C>A
ENST00000579314.5:c.*1441C>A	ENSP00000462599.1:n.*1441C>A
NM_000789.3:c.3712C>A	NP_000780.1:p.Pro1238Thr
NM_001178057.1:c.1867C>A	NP_001171528.1:p.Pro623Thr
NM_152830.2:c.1990C>A	NP_690043.1:p.Pro664Thr
XM_005257110.1:c.3163C>A	XP_005257167.1:p.Pro1055Thr
XM_006721737.2:c.2050C>A	XP_006721800.2:p.Pro684Thr
XM_006721737.3:c.2050C>A	XP_006721800.2:p.Pro684Thr
NM_000789.4:c.3712C>A MANE Select	NP_000780.1:p.Pro1238Thr
NM_001178057.2:c.1867C>A	NP_001171528.1:p.Pro623Thr
NM_152830.3:c.1990C>A	NP_690043.1:p.Pro664Thr
NM_001382700.1:c.3145C>A	NP_001369629.1:p.Pro1049Thr
NM_001382701.1:c.2860C>A	NP_001369630.1:p.Pro954Thr
NM_001382702.1:c.1327C>A	NP_001369631.1:p.Pro443Thr
NR_168483.1:n.2090C>A