Canonical Allele Identifier: CA400568487

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574540T>A (hg19) ; chr17:g.63497179T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497179T>A , CM000679.2:g.63497179T>A	GRCh38
NC_000017.10:g.61574540T>A , CM000679.1:g.61574540T>A	GRCh37
NC_000017.9:g.58928272T>A	NCBI36
NG_011648.1:g.25107T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3734T>A MANE Select	ENSP00000290866.4:p.Phe1245Tyr
ENST00000290863.10:c.2012T>A	ENSP00000290863.6:p.Phe671Tyr
ENST00000290866.9:c.3734T>A	ENSP00000290866.4:p.Phe1245Tyr
ENST00000413513.7:c.1889T>A	ENSP00000392247.3:p.Phe630Tyr
ENST00000428043.5:c.*156T>A	ENSP00000397593.2:n.*156T>A
ENST00000577647.2:c.1969+194T>A	ENSP00000464149.1:n.1969+194T>A
ENST00000578839.5:c.*1489T>A	ENSP00000462110.2:n.*1489T>A
ENST00000579314.5:c.*1463T>A	ENSP00000462599.1:n.*1463T>A
NM_000789.3:c.3734T>A	NP_000780.1:p.Phe1245Tyr
NM_001178057.1:c.1889T>A	NP_001171528.1:p.Phe630Tyr
NM_152830.2:c.2012T>A	NP_690043.1:p.Phe671Tyr
XM_005257110.1:c.3185T>A	XP_005257167.1:p.Phe1062Tyr
XM_006721737.2:c.2072T>A	XP_006721800.2:p.Phe691Tyr
XM_006721737.3:c.2072T>A	XP_006721800.2:p.Phe691Tyr
NM_000789.4:c.3734T>A MANE Select	NP_000780.1:p.Phe1245Tyr
NM_001178057.2:c.1889T>A	NP_001171528.1:p.Phe630Tyr
NM_152830.3:c.2012T>A	NP_690043.1:p.Phe671Tyr
NM_001382700.1:c.3167T>A	NP_001369629.1:p.Phe1056Tyr
NM_001382701.1:c.2882T>A	NP_001369630.1:p.Phe961Tyr
NM_001382702.1:c.1349T>A	NP_001369631.1:p.Phe450Tyr
NR_168483.1:n.2112T>A