Canonical Allele Identifier: CA400555924

Gene: ACE

Linked Data

• dbSNP Id: rs1303374381
• gnomAD v2: 17-61563981-G-A
• MyVariant Identifiers: chr17:g.61563981G>A (hg19) ; chr17:g.63486620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486620G>A , CM000679.2:g.63486620G>A	GRCh38
NC_000017.10:g.61563981G>A , CM000679.1:g.61563981G>A	GRCh37
NC_000017.9:g.58917713G>A	NCBI36
NG_011648.1:g.14548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2122G>A MANE Select	ENSP00000290866.4:p.Asp708Asn
ENST00000290863.10:c.400G>A	ENSP00000290863.6:p.Asp134Asn
ENST00000290866.9:c.2122G>A	ENSP00000290866.4:p.Asp708Asn
ENST00000413513.7:c.400G>A	ENSP00000392247.3:p.Asp134Asn
ENST00000428043.5:c.2122G>A	ENSP00000397593.2:p.Asp708Asn
ENST00000577647.2:c.400G>A	ENSP00000464149.1:p.Asp134Asn
ENST00000578839.5:c.*192G>A	ENSP00000462110.2:n.*192G>A
ENST00000579204.1:c.303G>A	ENSP00000464629.1:n.303G>A
ENST00000579314.5:c.400G>A	ENSP00000462599.1:p.Asp134Asn
ENST00000579726.5:c.684G>A
ENST00000582005.5:c.*42G>A	ENSP00000462002.1:n.*42G>A
NM_000789.3:c.2122G>A	NP_000780.1:p.Asp708Asn
NM_001178057.1:c.400G>A	NP_001171528.1:p.Asp134Asn
NM_152830.2:c.400G>A	NP_690043.1:p.Asp134Asn
XM_005257110.1:c.1573G>A	XP_005257167.1:p.Asp525Asn
XM_006721737.2:c.460G>A	XP_006721800.2:p.Asp154Asn
XM_006721737.3:c.460G>A	XP_006721800.2:p.Asp154Asn
NM_000789.4:c.2122G>A MANE Select	NP_000780.1:p.Asp708Asn
NM_001178057.2:c.400G>A	NP_001171528.1:p.Asp134Asn
NM_152830.3:c.400G>A	NP_690043.1:p.Asp134Asn
NM_001382700.1:c.1555G>A	NP_001369629.1:p.Asp519Asn
NM_001382701.1:c.1270G>A	NP_001369630.1:p.Asp424Asn
NM_001382702.1:c.52G>A	NP_001369631.1:p.Asp18Asn
NR_168483.1:n.422G>A