Canonical Allele Identifier: CA400569376

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574665A>T (hg19) ; chr17:g.63497304A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497304A>T , CM000679.2:g.63497304A>T	GRCh38
NC_000017.10:g.61574665A>T , CM000679.1:g.61574665A>T	GRCh37
NC_000017.9:g.58928397A>T	NCBI36
NG_011648.1:g.25232A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3859A>T MANE Select	ENSP00000290866.4:p.Ser1287Cys
ENST00000290863.10:c.2137A>T	ENSP00000290863.6:p.Ser713Cys
ENST00000290866.9:c.3859A>T	ENSP00000290866.4:p.Ser1287Cys
ENST00000413513.7:c.2014A>T	ENSP00000392247.3:p.Ser672Cys
ENST00000428043.5:c.*281A>T	ENSP00000397593.2:n.*281A>T
ENST00000577647.2:c.1969+319A>T	ENSP00000464149.1:n.1969+319A>T
ENST00000578839.5:c.*1614A>T	ENSP00000462110.2:n.*1614A>T
ENST00000579314.5:c.*1588A>T	ENSP00000462599.1:n.*1588A>T
NM_000789.3:c.3859A>T	NP_000780.1:p.Ser1287Cys
NM_001178057.1:c.2014A>T	NP_001171528.1:p.Ser672Cys
NM_152830.2:c.2137A>T	NP_690043.1:p.Ser713Cys
XM_005257110.1:c.3310A>T	XP_005257167.1:p.Ser1104Cys
XM_006721737.2:c.2197A>T	XP_006721800.2:p.Ser733Cys
XM_006721737.3:c.2197A>T	XP_006721800.2:p.Ser733Cys
NM_000789.4:c.3859A>T MANE Select	NP_000780.1:p.Ser1287Cys
NM_001178057.2:c.2014A>T	NP_001171528.1:p.Ser672Cys
NM_152830.3:c.2137A>T	NP_690043.1:p.Ser713Cys
NM_001382700.1:c.3292A>T	NP_001369629.1:p.Ser1098Cys
NM_001382701.1:c.3007A>T	NP_001369630.1:p.Ser1003Cys
NM_001382702.1:c.1474A>T	NP_001369631.1:p.Ser492Cys
NR_168483.1:n.2237A>T