Canonical Allele Identifier: CA400567355

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574262C>A (hg19) ; chr17:g.63496901C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496901C>A , CM000679.2:g.63496901C>A	GRCh38
NC_000017.10:g.61574262C>A , CM000679.1:g.61574262C>A	GRCh37
NC_000017.9:g.58927994C>A	NCBI36
NG_011648.1:g.24829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3607C>A MANE Select	ENSP00000290866.4:p.Pro1203Thr
ENST00000290863.10:c.1885C>A	ENSP00000290863.6:p.Pro629Thr
ENST00000290866.9:c.3607C>A	ENSP00000290866.4:p.Pro1203Thr
ENST00000413513.7:c.1762C>A	ENSP00000392247.3:p.Pro588Thr
ENST00000428043.5:c.3607C>A	ENSP00000397593.2:p.Pro1203Thr
ENST00000577418.5:n.617C>A
ENST00000577647.2:c.1885C>A	ENSP00000464149.1:p.Pro629Thr
ENST00000578839.5:c.*1362C>A	ENSP00000462110.2:n.*1362C>A
ENST00000579314.5:c.*1336C>A	ENSP00000462599.1:n.*1336C>A
ENST00000579409.1:c.294C>A
ENST00000582244.1:n.481C>A
NM_000789.3:c.3607C>A	NP_000780.1:p.Pro1203Thr
NM_001178057.1:c.1762C>A	NP_001171528.1:p.Pro588Thr
NM_152830.2:c.1885C>A	NP_690043.1:p.Pro629Thr
XM_005257110.1:c.3058C>A	XP_005257167.1:p.Pro1020Thr
XM_006721737.2:c.1945C>A	XP_006721800.2:p.Pro649Thr
XM_006721737.3:c.1945C>A	XP_006721800.2:p.Pro649Thr
NM_000789.4:c.3607C>A MANE Select	NP_000780.1:p.Pro1203Thr
NM_001178057.2:c.1762C>A	NP_001171528.1:p.Pro588Thr
NM_152830.3:c.1885C>A	NP_690043.1:p.Pro629Thr
NM_001382700.1:c.3040C>A	NP_001369629.1:p.Pro1014Thr
NM_001382701.1:c.2755C>A	NP_001369630.1:p.Pro919Thr
NM_001382702.1:c.1222C>A	NP_001369631.1:p.Pro408Thr
NR_168483.1:n.1985C>A