Canonical Allele Identifier: CA400538874

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61554621A>T (hg19) ; chr17:g.63477260A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477260A>T , CM000679.2:g.63477260A>T	GRCh38
NC_000017.10:g.61554621A>T , CM000679.1:g.61554621A>T	GRCh37
NC_000017.9:g.58908353A>T	NCBI36
NG_011648.1:g.5188A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.166A>T MANE Select	ENSP00000290866.4:p.Ser56Cys
ENST00000290866.9:c.166A>T	ENSP00000290866.4:p.Ser56Cys
ENST00000428043.5:c.166A>T	ENSP00000397593.2:p.Ser56Cys
ENST00000579462.1:n.191A>T
ENST00000582678.5:c.166A>T	ENSP00000462995.1:p.Ser56Cys
ENST00000583336.5:n.200A>T
ENST00000584529.5:n.200A>T
NM_000789.3:c.166A>T	NP_000780.1:p.Ser56Cys
XM_005257110.1:c.-290A>T	XP_005257167.1:n.-290A>T
NM_000789.4:c.166A>T MANE Select	NP_000780.1:p.Ser56Cys
NM_001382700.1:c.-70A>T	NP_001369629.1:n.-70A>T
NM_001382701.1:c.-449A>T	NP_001369630.1:n.-449A>T