Canonical Allele Identifier: CA400569100

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574635A>T (hg19) ; chr17:g.63497274A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497274A>T , CM000679.2:g.63497274A>T	GRCh38
NC_000017.10:g.61574635A>T , CM000679.1:g.61574635A>T	GRCh37
NC_000017.9:g.58928367A>T	NCBI36
NG_011648.1:g.25202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3829A>T MANE Select	ENSP00000290866.4:p.Ser1277Cys
ENST00000290863.10:c.2107A>T	ENSP00000290863.6:p.Ser703Cys
ENST00000290866.9:c.3829A>T	ENSP00000290866.4:p.Ser1277Cys
ENST00000413513.7:c.1984A>T	ENSP00000392247.3:p.Ser662Cys
ENST00000428043.5:c.*251A>T	ENSP00000397593.2:n.*251A>T
ENST00000577647.2:c.1969+289A>T	ENSP00000464149.1:n.1969+289A>T
ENST00000578839.5:c.*1584A>T	ENSP00000462110.2:n.*1584A>T
ENST00000579314.5:c.*1558A>T	ENSP00000462599.1:n.*1558A>T
NM_000789.3:c.3829A>T	NP_000780.1:p.Ser1277Cys
NM_001178057.1:c.1984A>T	NP_001171528.1:p.Ser662Cys
NM_152830.2:c.2107A>T	NP_690043.1:p.Ser703Cys
XM_005257110.1:c.3280A>T	XP_005257167.1:p.Ser1094Cys
XM_006721737.2:c.2167A>T	XP_006721800.2:p.Ser723Cys
XM_006721737.3:c.2167A>T	XP_006721800.2:p.Ser723Cys
NM_000789.4:c.3829A>T MANE Select	NP_000780.1:p.Ser1277Cys
NM_001178057.2:c.1984A>T	NP_001171528.1:p.Ser662Cys
NM_152830.3:c.2107A>T	NP_690043.1:p.Ser703Cys
NM_001382700.1:c.3262A>T	NP_001369629.1:p.Ser1088Cys
NM_001382701.1:c.2977A>T	NP_001369630.1:p.Ser993Cys
NM_001382702.1:c.1444A>T	NP_001369631.1:p.Ser482Cys
NR_168483.1:n.2207A>T