Canonical Allele Identifier: CA400569689

Gene: ACE

Linked Data

• gnomAD v4: 17-63497335-T-A
• MyVariant Identifiers: chr17:g.61574696T>A (hg19) ; chr17:g.63497335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497335T>A , CM000679.2:g.63497335T>A	GRCh38
NC_000017.10:g.61574696T>A , CM000679.1:g.61574696T>A	GRCh37
NC_000017.9:g.58928428T>A	NCBI36
NG_011648.1:g.25263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3890T>A MANE Select	ENSP00000290866.4:p.Phe1297Tyr
ENST00000290863.10:c.2168T>A	ENSP00000290863.6:p.Phe723Tyr
ENST00000290866.9:c.3890T>A	ENSP00000290866.4:p.Phe1297Tyr
ENST00000413513.7:c.2045T>A	ENSP00000392247.3:p.Phe682Tyr
ENST00000428043.5:c.*312T>A	ENSP00000397593.2:n.*312T>A
ENST00000577647.2:c.1969+350T>A	ENSP00000464149.1:n.1969+350T>A
ENST00000578839.5:c.*1645T>A	ENSP00000462110.2:n.*1645T>A
ENST00000579314.5:c.*1619T>A	ENSP00000462599.1:n.*1619T>A
NM_000789.3:c.3890T>A	NP_000780.1:p.Phe1297Tyr
NM_001178057.1:c.2045T>A	NP_001171528.1:p.Phe682Tyr
NM_152830.2:c.2168T>A	NP_690043.1:p.Phe723Tyr
XM_005257110.1:c.3341T>A	XP_005257167.1:p.Phe1114Tyr
XM_006721737.2:c.2228T>A	XP_006721800.2:p.Phe743Tyr
XM_006721737.3:c.2228T>A	XP_006721800.2:p.Phe743Tyr
NM_000789.4:c.3890T>A MANE Select	NP_000780.1:p.Phe1297Tyr
NM_001178057.2:c.2045T>A	NP_001171528.1:p.Phe682Tyr
NM_152830.3:c.2168T>A	NP_690043.1:p.Phe723Tyr
NM_001382700.1:c.3323T>A	NP_001369629.1:p.Phe1108Tyr
NM_001382701.1:c.3038T>A	NP_001369630.1:p.Phe1013Tyr
NM_001382702.1:c.1505T>A	NP_001369631.1:p.Phe502Tyr
NR_168483.1:n.2268T>A