Canonical Allele Identifier: CA8700639

Gene: ACE

Linked Data

• dbSNP Id: rs750545791
• ExAC: 17:61574500 C / T
• gnomAD v2: 17-61574500-C-T
• gnomAD v3: 17-63497139-C-T
• gnomAD v4: 17-63497139-C-T
• COSMIC: COSM4821539 ; COSM4821540
• MyVariant Identifiers: chr17:g.61574500C>T (hg19) ; chr17:g.63497139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497139C>T , CM000679.2:g.63497139C>T	GRCh38
NC_000017.10:g.61574500C>T , CM000679.1:g.61574500C>T	GRCh37
NC_000017.9:g.58928232C>T	NCBI36
NG_011648.1:g.25067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3694C>T MANE Select	ENSP00000290866.4:p.Arg1232Cys
ENST00000290863.10:c.1972C>T	ENSP00000290863.6:p.Arg658Cys
ENST00000290866.9:c.3694C>T	ENSP00000290866.4:p.Arg1232Cys
ENST00000413513.7:c.1849C>T	ENSP00000392247.3:p.Arg617Cys
ENST00000428043.5:c.*116C>T	ENSP00000397593.2:n.*116C>T
ENST00000577418.5:n.704C>T
ENST00000577647.2:c.1969+154C>T	ENSP00000464149.1:n.1969+154C>T
ENST00000578839.5:c.*1449C>T	ENSP00000462110.2:n.*1449C>T
ENST00000579314.5:c.*1423C>T	ENSP00000462599.1:n.*1423C>T
ENST00000579409.1:c.532C>T
NM_000789.3:c.3694C>T	NP_000780.1:p.Arg1232Cys
NM_001178057.1:c.1849C>T	NP_001171528.1:p.Arg617Cys
NM_152830.2:c.1972C>T	NP_690043.1:p.Arg658Cys
XM_005257110.1:c.3145C>T	XP_005257167.1:p.Arg1049Cys
XM_006721737.2:c.2032C>T	XP_006721800.2:p.Arg678Cys
XM_006721737.3:c.2032C>T	XP_006721800.2:p.Arg678Cys
NM_000789.4:c.3694C>T MANE Select	NP_000780.1:p.Arg1232Cys
NM_001178057.2:c.1849C>T	NP_001171528.1:p.Arg617Cys
NM_152830.3:c.1972C>T	NP_690043.1:p.Arg658Cys
NM_001382700.1:c.3127C>T	NP_001369629.1:p.Arg1043Cys
NM_001382701.1:c.2842C>T	NP_001369630.1:p.Arg948Cys
NM_001382702.1:c.1309C>T	NP_001369631.1:p.Arg437Cys
NR_168483.1:n.2072C>T