Canonical Allele Identifier: CA400558359

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566377T>A (hg19) ; chr17:g.63489016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489016T>A , CM000679.2:g.63489016T>A	GRCh38
NC_000017.10:g.61566377T>A , CM000679.1:g.61566377T>A	GRCh37
NC_000017.9:g.58920109T>A	NCBI36
NG_011648.1:g.16944T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2525T>A MANE Select	ENSP00000290866.4:p.Phe842Tyr
ENST00000290863.10:c.803T>A	ENSP00000290863.6:p.Phe268Tyr
ENST00000290866.9:c.2525T>A	ENSP00000290866.4:p.Phe842Tyr
ENST00000413513.7:c.803T>A	ENSP00000392247.3:p.Phe268Tyr
ENST00000428043.5:c.2525T>A	ENSP00000397593.2:p.Phe842Tyr
ENST00000577647.2:c.803T>A	ENSP00000464149.1:p.Phe268Tyr
ENST00000578839.5:c.*519+225T>A	ENSP00000462110.2:n.*519+225T>A
ENST00000579204.1:c.784T>A	ENSP00000464629.1:n.784T>A
ENST00000579314.5:c.*254T>A	ENSP00000462599.1:n.*254T>A
ENST00000582005.5:c.*445T>A	ENSP00000462002.1:n.*445T>A
ENST00000582761.1:c.293T>A	ENSP00000462909.1:p.Phe98Tyr
ENST00000584865.5:n.471T>A
NM_000789.3:c.2525T>A	NP_000780.1:p.Phe842Tyr
NM_001178057.1:c.803T>A	NP_001171528.1:p.Phe268Tyr
NM_152830.2:c.803T>A	NP_690043.1:p.Phe268Tyr
XM_005257110.1:c.1976T>A	XP_005257167.1:p.Phe659Tyr
XM_006721737.2:c.863T>A	XP_006721800.2:p.Phe288Tyr
XM_006721737.3:c.863T>A	XP_006721800.2:p.Phe288Tyr
NM_000789.4:c.2525T>A MANE Select	NP_000780.1:p.Phe842Tyr
NM_001178057.2:c.803T>A	NP_001171528.1:p.Phe268Tyr
NM_152830.3:c.803T>A	NP_690043.1:p.Phe268Tyr
NM_001382700.1:c.1958T>A	NP_001369629.1:p.Phe653Tyr
NM_001382701.1:c.1673T>A	NP_001369630.1:p.Phe558Tyr
NM_001382702.1:c.379+225T>A	NP_001369631.1:n.379+225T>A
NR_168483.1:n.903T>A