Canonical Allele Identifier: CA400569610

Gene: ACE

Linked Data

• ClinVar Variation Id: 2074785
• ClinVar RCV Id: RCV002963036
• gnomAD v4: 17-63497329-C-A
• MyVariant Identifiers: chr17:g.61574690C>A (hg19) ; chr17:g.63497329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497329C>A , CM000679.2:g.63497329C>A	GRCh38
NC_000017.10:g.61574690C>A , CM000679.1:g.61574690C>A	GRCh37
NC_000017.9:g.58928422C>A	NCBI36
NG_011648.1:g.25257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3884C>A MANE Select	ENSP00000290866.4:p.Pro1295His
ENST00000290863.10:c.2162C>A	ENSP00000290863.6:p.Pro721His
ENST00000290866.9:c.3884C>A	ENSP00000290866.4:p.Pro1295His
ENST00000413513.7:c.2039C>A	ENSP00000392247.3:p.Pro680His
ENST00000428043.5:c.*306C>A	ENSP00000397593.2:n.*306C>A
ENST00000577647.2:c.1969+344C>A	ENSP00000464149.1:n.1969+344C>A
ENST00000578839.5:c.*1639C>A	ENSP00000462110.2:n.*1639C>A
ENST00000579314.5:c.*1613C>A	ENSP00000462599.1:n.*1613C>A
NM_000789.3:c.3884C>A	NP_000780.1:p.Pro1295His
NM_001178057.1:c.2039C>A	NP_001171528.1:p.Pro680His
NM_152830.2:c.2162C>A	NP_690043.1:p.Pro721His
XM_005257110.1:c.3335C>A	XP_005257167.1:p.Pro1112His
XM_006721737.2:c.2222C>A	XP_006721800.2:p.Pro741His
XM_006721737.3:c.2222C>A	XP_006721800.2:p.Pro741His
NM_000789.4:c.3884C>A MANE Select	NP_000780.1:p.Pro1295His
NM_001178057.2:c.2039C>A	NP_001171528.1:p.Pro680His
NM_152830.3:c.2162C>A	NP_690043.1:p.Pro721His
NM_001382700.1:c.3317C>A	NP_001369629.1:p.Pro1106His
NM_001382701.1:c.3032C>A	NP_001369630.1:p.Pro1011His
NM_001382702.1:c.1499C>A	NP_001369631.1:p.Pro500His
NR_168483.1:n.2262C>A