Canonical Allele Identifier: CA8700644

Gene: ACE

Linked Data

• dbSNP Id: rs777561376
• ExAC: 17:61574522 A / G
• gnomAD v2: 17-61574522-A-G
• gnomAD v4: 17-63497161-A-G
• COSMIC: COSM5551538 ; COSM5551539
• MyVariant Identifiers: chr17:g.61574522A>G (hg19) ; chr17:g.63497161A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3716A>G MANE Select	ENSP00000290866.4:p.Asp1239Gly
ENST00000290863.10:c.1994A>G	ENSP00000290863.6:p.Asp665Gly
ENST00000290866.9:c.3716A>G	ENSP00000290866.4:p.Asp1239Gly
ENST00000413513.7:c.1871A>G	ENSP00000392247.3:p.Asp624Gly
ENST00000428043.5:c.*138A>G	ENSP00000397593.2:n.*138A>G
ENST00000577418.5:n.726A>G
ENST00000577647.2:c.1969+176A>G	ENSP00000464149.1:n.1969+176A>G
ENST00000578839.5:c.*1471A>G	ENSP00000462110.2:n.*1471A>G
ENST00000579314.5:c.*1445A>G	ENSP00000462599.1:n.*1445A>G
NM_000789.3:c.3716A>G	NP_000780.1:p.Asp1239Gly
NM_001178057.1:c.1871A>G	NP_001171528.1:p.Asp624Gly
NM_152830.2:c.1994A>G	NP_690043.1:p.Asp665Gly
XM_005257110.1:c.3167A>G	XP_005257167.1:p.Asp1056Gly
XM_006721737.2:c.2054A>G	XP_006721800.2:p.Asp685Gly
XM_006721737.3:c.2054A>G	XP_006721800.2:p.Asp685Gly
NM_000789.4:c.3716A>G MANE Select	NP_000780.1:p.Asp1239Gly
NM_001178057.2:c.1871A>G	NP_001171528.1:p.Asp624Gly
NM_152830.3:c.1994A>G	NP_690043.1:p.Asp665Gly
NM_001382700.1:c.3149A>G	NP_001369629.1:p.Asp1050Gly
NM_001382701.1:c.2864A>G	NP_001369630.1:p.Asp955Gly
NM_001382702.1:c.1331A>G	NP_001369631.1:p.Asp444Gly
NR_168483.1:n.2094A>G