Canonical Allele Identifier: CA501342514

Gene: ACE

Linked Data

• ClinVar Variation Id: 1902591
• ClinVar RCV Id: RCV002580400
• dbSNP Id: rs1013454628
• gnomAD v2: 17-61574685-C-T
• gnomAD v3: 17-63497324-C-T
• gnomAD v4: 17-63497324-C-T
• MyVariant Identifiers: chr17:g.61574685C>T (hg19) ; chr17:g.63497324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497324C>T , CM000679.2:g.63497324C>T	GRCh38
NC_000017.10:g.61574685C>T , CM000679.1:g.61574685C>T	GRCh37
NC_000017.9:g.58928417C>T	NCBI36
NG_011648.1:g.25252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3879C>T MANE Select	ENSP00000290866.4:p.His1293=
ENST00000290863.10:c.2157C>T	ENSP00000290863.6:p.His719=
ENST00000290866.9:c.3879C>T	ENSP00000290866.4:p.His1293=
ENST00000413513.7:c.2034C>T	ENSP00000392247.3:p.His678=
ENST00000428043.5:c.*301C>T	ENSP00000397593.2:n.*301C>T
ENST00000577647.2:c.1969+339C>T	ENSP00000464149.1:n.1969+339C>T
ENST00000578839.5:c.*1634C>T	ENSP00000462110.2:n.*1634C>T
ENST00000579314.5:c.*1608C>T	ENSP00000462599.1:n.*1608C>T
NM_000789.3:c.3879C>T	NP_000780.1:p.His1293=
NM_001178057.1:c.2034C>T	NP_001171528.1:p.His678=
NM_152830.2:c.2157C>T	NP_690043.1:p.His719=
XM_005257110.1:c.3330C>T	XP_005257167.1:p.His1110=
XM_006721737.2:c.2217C>T	XP_006721800.2:p.His739=
XM_006721737.3:c.2217C>T	XP_006721800.2:p.His739=
NM_000789.4:c.3879C>T MANE Select	NP_000780.1:p.His1293=
NM_001178057.2:c.2034C>T	NP_001171528.1:p.His678=
NM_152830.3:c.2157C>T	NP_690043.1:p.His719=
NM_001382700.1:c.3312C>T	NP_001369629.1:p.His1104=
NM_001382701.1:c.3027C>T	NP_001369630.1:p.His1009=
NM_001382702.1:c.1494C>T	NP_001369631.1:p.His498=
NR_168483.1:n.2257C>T