Canonical Allele Identifier: CA400549432

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559898A>G (hg19) ; chr17:g.63482537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482537A>G , CM000679.2:g.63482537A>G	GRCh38
NC_000017.10:g.61559898A>G , CM000679.1:g.61559898A>G	GRCh37
NC_000017.9:g.58913630A>G	NCBI36
NG_011648.1:g.10465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1190A>G MANE Select	ENSP00000290866.4:p.Tyr397Cys
ENST00000290866.9:c.1190A>G	ENSP00000290866.4:p.Tyr397Cys
ENST00000428043.5:c.1190A>G	ENSP00000397593.2:p.Tyr397Cys
ENST00000582678.5:c.*589A>G	ENSP00000462995.1:n.*589A>G
ENST00000584529.5:n.1224A>G
NM_000789.3:c.1190A>G	NP_000780.1:p.Tyr397Cys
XM_005257110.1:c.641A>G	XP_005257167.1:p.Tyr214Cys
NM_000789.4:c.1190A>G MANE Select	NP_000780.1:p.Tyr397Cys
NM_001382700.1:c.623A>G	NP_001369629.1:p.Tyr208Cys
NM_001382701.1:c.338A>G	NP_001369630.1:p.Tyr113Cys