Canonical Allele Identifier: CA8700661

Gene: ACE

Linked Data

• ClinVar Variation Id: 324419
• ClinVar RCV Id: RCV000300921 ; RCV002495023
• dbSNP Id: rs759857038
• ExAC: 17:61574575 G / A
• gnomAD v2: 17-61574575-G-A
• gnomAD v3: 17-63497214-G-A
• gnomAD v4: 17-63497214-G-A
• MyVariant Identifiers: chr17:g.61574575G>A (hg19) ; chr17:g.63497214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497214G>A , CM000679.2:g.63497214G>A	GRCh38
NC_000017.10:g.61574575G>A , CM000679.1:g.61574575G>A	GRCh37
NC_000017.9:g.58928307G>A	NCBI36
NG_011648.1:g.25142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3769G>A MANE Select	ENSP00000290866.4:p.Val1257Met
ENST00000290863.10:c.2047G>A	ENSP00000290863.6:p.Val683Met
ENST00000290866.9:c.3769G>A	ENSP00000290866.4:p.Val1257Met
ENST00000413513.7:c.1924G>A	ENSP00000392247.3:p.Val642Met
ENST00000428043.5:c.*191G>A	ENSP00000397593.2:n.*191G>A
ENST00000577647.2:c.1969+229G>A	ENSP00000464149.1:n.1969+229G>A
ENST00000578839.5:c.*1524G>A	ENSP00000462110.2:n.*1524G>A
ENST00000579314.5:c.*1498G>A	ENSP00000462599.1:n.*1498G>A
NM_000789.3:c.3769G>A	NP_000780.1:p.Val1257Met
NM_001178057.1:c.1924G>A	NP_001171528.1:p.Val642Met
NM_152830.2:c.2047G>A	NP_690043.1:p.Val683Met
XM_005257110.1:c.3220G>A	XP_005257167.1:p.Val1074Met
XM_006721737.2:c.2107G>A	XP_006721800.2:p.Val703Met
XM_006721737.3:c.2107G>A	XP_006721800.2:p.Val703Met
NM_000789.4:c.3769G>A MANE Select	NP_000780.1:p.Val1257Met
NM_001178057.2:c.1924G>A	NP_001171528.1:p.Val642Met
NM_152830.3:c.2047G>A	NP_690043.1:p.Val683Met
NM_001382700.1:c.3202G>A	NP_001369629.1:p.Val1068Met
NM_001382701.1:c.2917G>A	NP_001369630.1:p.Val973Met
NM_001382702.1:c.1384G>A	NP_001369631.1:p.Val462Met
NR_168483.1:n.2147G>A