Canonical Allele Identifier: CA400568386

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574522A>C (hg19) ; chr17:g.63497161A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497161A>C , CM000679.2:g.63497161A>C	GRCh38
NC_000017.10:g.61574522A>C , CM000679.1:g.61574522A>C	GRCh37
NC_000017.9:g.58928254A>C	NCBI36
NG_011648.1:g.25089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3716A>C MANE Select	ENSP00000290866.4:p.Asp1239Ala
ENST00000290863.10:c.1994A>C	ENSP00000290863.6:p.Asp665Ala
ENST00000290866.9:c.3716A>C	ENSP00000290866.4:p.Asp1239Ala
ENST00000413513.7:c.1871A>C	ENSP00000392247.3:p.Asp624Ala
ENST00000428043.5:c.*138A>C	ENSP00000397593.2:n.*138A>C
ENST00000577418.5:n.726A>C
ENST00000577647.2:c.1969+176A>C	ENSP00000464149.1:n.1969+176A>C
ENST00000578839.5:c.*1471A>C	ENSP00000462110.2:n.*1471A>C
ENST00000579314.5:c.*1445A>C	ENSP00000462599.1:n.*1445A>C
NM_000789.3:c.3716A>C	NP_000780.1:p.Asp1239Ala
NM_001178057.1:c.1871A>C	NP_001171528.1:p.Asp624Ala
NM_152830.2:c.1994A>C	NP_690043.1:p.Asp665Ala
XM_005257110.1:c.3167A>C	XP_005257167.1:p.Asp1056Ala
XM_006721737.2:c.2054A>C	XP_006721800.2:p.Asp685Ala
XM_006721737.3:c.2054A>C	XP_006721800.2:p.Asp685Ala
NM_000789.4:c.3716A>C MANE Select	NP_000780.1:p.Asp1239Ala
NM_001178057.2:c.1871A>C	NP_001171528.1:p.Asp624Ala
NM_152830.3:c.1994A>C	NP_690043.1:p.Asp665Ala
NM_001382700.1:c.3149A>C	NP_001369629.1:p.Asp1050Ala
NM_001382701.1:c.2864A>C	NP_001369630.1:p.Asp955Ala
NM_001382702.1:c.1331A>C	NP_001369631.1:p.Asp444Ala
NR_168483.1:n.2094A>C