Canonical Allele Identifier: CA400567155

Gene: ACE

Linked Data

• gnomAD v4: 17-63496885-G-A
• MyVariant Identifiers: chr17:g.61574246G>A (hg19) ; chr17:g.63496885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496885G>A , CM000679.2:g.63496885G>A	GRCh38
NC_000017.10:g.61574246G>A , CM000679.1:g.61574246G>A	GRCh37
NC_000017.9:g.58927978G>A	NCBI36
NG_011648.1:g.24813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3591G>A MANE Select	ENSP00000290866.4:p.Met1197Ile
ENST00000290863.10:c.1869G>A	ENSP00000290863.6:p.Met623Ile
ENST00000290866.9:c.3591G>A	ENSP00000290866.4:p.Met1197Ile
ENST00000413513.7:c.1746G>A	ENSP00000392247.3:p.Met582Ile
ENST00000428043.5:c.3591G>A	ENSP00000397593.2:p.Met1197Ile
ENST00000577418.5:n.601G>A
ENST00000577647.2:c.1869G>A	ENSP00000464149.1:p.Met623Ile
ENST00000578839.5:c.*1346G>A	ENSP00000462110.2:n.*1346G>A
ENST00000579314.5:c.*1320G>A	ENSP00000462599.1:n.*1320G>A
ENST00000579409.1:c.278G>A
ENST00000582244.1:n.465G>A
NM_000789.3:c.3591G>A	NP_000780.1:p.Met1197Ile
NM_001178057.1:c.1746G>A	NP_001171528.1:p.Met582Ile
NM_152830.2:c.1869G>A	NP_690043.1:p.Met623Ile
XM_005257110.1:c.3042G>A	XP_005257167.1:p.Met1014Ile
XM_006721737.2:c.1929G>A	XP_006721800.2:p.Met643Ile
XM_006721737.3:c.1929G>A	XP_006721800.2:p.Met643Ile
NM_000789.4:c.3591G>A MANE Select	NP_000780.1:p.Met1197Ile
NM_001178057.2:c.1746G>A	NP_001171528.1:p.Met582Ile
NM_152830.3:c.1869G>A	NP_690043.1:p.Met623Ile
NM_001382700.1:c.3024G>A	NP_001369629.1:p.Met1008Ile
NM_001382701.1:c.2739G>A	NP_001369630.1:p.Met913Ile
NM_001382702.1:c.1206G>A	NP_001369631.1:p.Met402Ile
NR_168483.1:n.1969G>A