Canonical Allele Identifier: CA400569368

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3859A>C MANE Select	ENSP00000290866.4:p.Ser1287Arg
ENST00000290863.10:c.2137A>C	ENSP00000290863.6:p.Ser713Arg
ENST00000290866.9:c.3859A>C	ENSP00000290866.4:p.Ser1287Arg
ENST00000413513.7:c.2014A>C	ENSP00000392247.3:p.Ser672Arg
ENST00000428043.5:c.*281A>C	ENSP00000397593.2:n.*281A>C
ENST00000577647.2:c.1969+319A>C	ENSP00000464149.1:n.1969+319A>C
ENST00000578839.5:c.*1614A>C	ENSP00000462110.2:n.*1614A>C
ENST00000579314.5:c.*1588A>C	ENSP00000462599.1:n.*1588A>C
NM_000789.3:c.3859A>C	NP_000780.1:p.Ser1287Arg
NM_001178057.1:c.2014A>C	NP_001171528.1:p.Ser672Arg
NM_152830.2:c.2137A>C	NP_690043.1:p.Ser713Arg
XM_005257110.1:c.3310A>C	XP_005257167.1:p.Ser1104Arg
XM_006721737.2:c.2197A>C	XP_006721800.2:p.Ser733Arg
XM_006721737.3:c.2197A>C	XP_006721800.2:p.Ser733Arg
NM_000789.4:c.3859A>C MANE Select	NP_000780.1:p.Ser1287Arg
NM_001178057.2:c.2014A>C	NP_001171528.1:p.Ser672Arg
NM_152830.3:c.2137A>C	NP_690043.1:p.Ser713Arg
NM_001382700.1:c.3292A>C	NP_001369629.1:p.Ser1098Arg
NM_001382701.1:c.3007A>C	NP_001369630.1:p.Ser1003Arg
NM_001382702.1:c.1474A>C	NP_001369631.1:p.Ser492Arg
NR_168483.1:n.2237A>C