Canonical Allele Identifier: CA8700682

Gene: ACE

Linked Data

• ClinVar Variation Id: 324421
• ClinVar RCV Id: RCV000332385
• dbSNP Id: rs765069550
• ExAC: 17:61574683 C / T
• gnomAD v2: 17-61574683-C-T
• gnomAD v3: 17-63497322-C-T
• gnomAD v4: 17-63497322-C-T
• MyVariant Identifiers: chr17:g.61574683C>T (hg19) ; chr17:g.63497322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497322C>T , CM000679.2:g.63497322C>T	GRCh38
NC_000017.10:g.61574683C>T , CM000679.1:g.61574683C>T	GRCh37
NC_000017.9:g.58928415C>T	NCBI36
NG_011648.1:g.25250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3877C>T MANE Select	ENSP00000290866.4:p.His1293Tyr
ENST00000290863.10:c.2155C>T	ENSP00000290863.6:p.His719Tyr
ENST00000290866.9:c.3877C>T	ENSP00000290866.4:p.His1293Tyr
ENST00000413513.7:c.2032C>T	ENSP00000392247.3:p.His678Tyr
ENST00000428043.5:c.*299C>T	ENSP00000397593.2:n.*299C>T
ENST00000577647.2:c.1969+337C>T	ENSP00000464149.1:n.1969+337C>T
ENST00000578839.5:c.*1632C>T	ENSP00000462110.2:n.*1632C>T
ENST00000579314.5:c.*1606C>T	ENSP00000462599.1:n.*1606C>T
NM_000789.3:c.3877C>T	NP_000780.1:p.His1293Tyr
NM_001178057.1:c.2032C>T	NP_001171528.1:p.His678Tyr
NM_152830.2:c.2155C>T	NP_690043.1:p.His719Tyr
XM_005257110.1:c.3328C>T	XP_005257167.1:p.His1110Tyr
XM_006721737.2:c.2215C>T	XP_006721800.2:p.His739Tyr
XM_006721737.3:c.2215C>T	XP_006721800.2:p.His739Tyr
NM_000789.4:c.3877C>T MANE Select	NP_000780.1:p.His1293Tyr
NM_001178057.2:c.2032C>T	NP_001171528.1:p.His678Tyr
NM_152830.3:c.2155C>T	NP_690043.1:p.His719Tyr
NM_001382700.1:c.3310C>T	NP_001369629.1:p.His1104Tyr
NM_001382701.1:c.3025C>T	NP_001369630.1:p.His1009Tyr
NM_001382702.1:c.1492C>T	NP_001369631.1:p.His498Tyr
NR_168483.1:n.2255C>T