Canonical Allele Identifier: CA8700548

Gene: ACE

Linked Data

• ClinVar Variation Id: 2966865
• ClinVar RCV Id: RCV003828999
• dbSNP Id: rs376216920
• ExAC: 17:61574195 G / A
• gnomAD v2: 17-61574195-G-A
• gnomAD v3: 17-63496834-G-A
• gnomAD v4: 17-63496834-G-A
• MyVariant Identifiers: chr17:g.61574195G>A (hg19) ; chr17:g.63496834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496834G>A , CM000679.2:g.63496834G>A	GRCh38
NC_000017.10:g.61574195G>A , CM000679.1:g.61574195G>A	GRCh37
NC_000017.9:g.58927927G>A	NCBI36
NG_011648.1:g.24762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3540G>A MANE Select	ENSP00000290866.4:p.Pro1180=
ENST00000290863.10:c.1818G>A	ENSP00000290863.6:p.Pro606=
ENST00000290866.9:c.3540G>A	ENSP00000290866.4:p.Pro1180=
ENST00000413513.7:c.1695G>A	ENSP00000392247.3:p.Pro565=
ENST00000428043.5:c.3540G>A	ENSP00000397593.2:p.Pro1180=
ENST00000577418.5:n.550G>A
ENST00000577647.2:c.1818G>A	ENSP00000464149.1:p.Pro606=
ENST00000578839.5:c.*1295G>A	ENSP00000462110.2:n.*1295G>A
ENST00000579314.5:c.*1269G>A	ENSP00000462599.1:n.*1269G>A
ENST00000579409.1:c.227G>A
ENST00000582244.1:n.414G>A
NM_000789.3:c.3540G>A	NP_000780.1:p.Pro1180=
NM_001178057.1:c.1695G>A	NP_001171528.1:p.Pro565=
NM_152830.2:c.1818G>A	NP_690043.1:p.Pro606=
XM_005257110.1:c.2991G>A	XP_005257167.1:p.Pro997=
XM_006721737.2:c.1878G>A	XP_006721800.2:p.Pro626=
XM_006721737.3:c.1878G>A	XP_006721800.2:p.Pro626=
NM_000789.4:c.3540G>A MANE Select	NP_000780.1:p.Pro1180=
NM_001178057.2:c.1695G>A	NP_001171528.1:p.Pro565=
NM_152830.3:c.1818G>A	NP_690043.1:p.Pro606=
NM_001382700.1:c.2973G>A	NP_001369629.1:p.Pro991=
NM_001382701.1:c.2688G>A	NP_001369630.1:p.Pro896=
NM_001382702.1:c.1155G>A	NP_001369631.1:p.Pro385=
NR_168483.1:n.1918G>A