Canonical Allele Identifier: CA292890204

Gene: ACE

Linked Data

• ClinVar Variation Id: 426544
• ClinVar RCV Id: RCV000489498
• dbSNP Id: rs756742824
• gnomAD v4: 17-63496983-C-T
• MyVariant Identifiers: chr17:g.61574344C>T (hg19) ; chr17:g.63496983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496983C>T , CM000679.2:g.63496983C>T	GRCh38
NC_000017.10:g.61574344C>T , CM000679.1:g.61574344C>T	GRCh37
NC_000017.9:g.58928076C>T	NCBI36
NG_011648.1:g.24911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3689C>T MANE Select	ENSP00000290866.4:p.Ser1230Phe
ENST00000290863.10:c.1967C>T	ENSP00000290863.6:p.Ser656Phe
ENST00000290866.9:c.3689C>T	ENSP00000290866.4:p.Ser1230Phe
ENST00000413513.7:c.1844C>T	ENSP00000392247.3:p.Ser615Phe
ENST00000428043.5:c.3689C>T	ENSP00000397593.2:p.Ser1230Phe
ENST00000577418.5:n.699C>T
ENST00000577647.2:c.1967C>T	ENSP00000464149.1:p.Ser656Phe
ENST00000578839.5:c.*1444C>T	ENSP00000462110.2:n.*1444C>T
ENST00000579314.5:c.*1418C>T	ENSP00000462599.1:n.*1418C>T
ENST00000579409.1:c.376C>T
ENST00000582244.1:n.563C>T
NM_000789.3:c.3689C>T	NP_000780.1:p.Ser1230Phe
NM_001178057.1:c.1844C>T	NP_001171528.1:p.Ser615Phe
NM_152830.2:c.1967C>T	NP_690043.1:p.Ser656Phe
XM_005257110.1:c.3140C>T	XP_005257167.1:p.Ser1047Phe
XM_006721737.2:c.2027C>T	XP_006721800.2:p.Ser676Phe
XM_006721737.3:c.2027C>T	XP_006721800.2:p.Ser676Phe
NM_000789.4:c.3689C>T MANE Select	NP_000780.1:p.Ser1230Phe
NM_001178057.2:c.1844C>T	NP_001171528.1:p.Ser615Phe
NM_152830.3:c.1967C>T	NP_690043.1:p.Ser656Phe
NM_001382700.1:c.3122C>T	NP_001369629.1:p.Ser1041Phe
NM_001382701.1:c.2837C>T	NP_001369630.1:p.Ser946Phe
NM_001382702.1:c.1304C>T	NP_001369631.1:p.Ser435Phe
NR_168483.1:n.2067C>T