Canonical Allele Identifier: CA292890484

Gene: ACE

Linked Data

• ClinVar Variation Id: 1987054
• ClinVar RCV Id: RCV002770989
• dbSNP Id: rs1024799181
• gnomAD v2: 17-61574698-G-T
• gnomAD v3: 17-63497337-G-T
• gnomAD v4: 17-63497337-G-T
• MyVariant Identifiers: chr17:g.61574698G>T (hg19) ; chr17:g.63497337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497337G>T , CM000679.2:g.63497337G>T	GRCh38
NC_000017.10:g.61574698G>T , CM000679.1:g.61574698G>T	GRCh37
NC_000017.9:g.58928430G>T	NCBI36
NG_011648.1:g.25265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3892G>T MANE Select	ENSP00000290866.4:p.Gly1298Cys
ENST00000290863.10:c.2170G>T	ENSP00000290863.6:p.Gly724Cys
ENST00000290866.9:c.3892G>T	ENSP00000290866.4:p.Gly1298Cys
ENST00000413513.7:c.2047G>T	ENSP00000392247.3:p.Gly683Cys
ENST00000428043.5:c.*314G>T	ENSP00000397593.2:n.*314G>T
ENST00000577647.2:c.1969+352G>T	ENSP00000464149.1:n.1969+352G>T
ENST00000578839.5:c.*1647G>T	ENSP00000462110.2:n.*1647G>T
ENST00000579314.5:c.*1621G>T	ENSP00000462599.1:n.*1621G>T
NM_000789.3:c.3892G>T	NP_000780.1:p.Gly1298Cys
NM_001178057.1:c.2047G>T	NP_001171528.1:p.Gly683Cys
NM_152830.2:c.2170G>T	NP_690043.1:p.Gly724Cys
XM_005257110.1:c.3343G>T	XP_005257167.1:p.Gly1115Cys
XM_006721737.2:c.2230G>T	XP_006721800.2:p.Gly744Cys
XM_006721737.3:c.2230G>T	XP_006721800.2:p.Gly744Cys
NM_000789.4:c.3892G>T MANE Select	NP_000780.1:p.Gly1298Cys
NM_001178057.2:c.2047G>T	NP_001171528.1:p.Gly683Cys
NM_152830.3:c.2170G>T	NP_690043.1:p.Gly724Cys
NM_001382700.1:c.3325G>T	NP_001369629.1:p.Gly1109Cys
NM_001382701.1:c.3040G>T	NP_001369630.1:p.Gly1014Cys
NM_001382702.1:c.1507G>T	NP_001369631.1:p.Gly503Cys
NR_168483.1:n.2270G>T