Canonical Allele Identifier: CA292890151

Gene: ACE

Linked Data

• dbSNP Id: rs996589954
• gnomAD v2: 17-61574289-A-G
• gnomAD v3: 17-63496928-A-G
• gnomAD v4: 17-63496928-A-G
• MyVariant Identifiers: chr17:g.61574289A>G (hg19) ; chr17:g.63496928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496928A>G , CM000679.2:g.63496928A>G	GRCh38
NC_000017.10:g.61574289A>G , CM000679.1:g.61574289A>G	GRCh37
NC_000017.9:g.58928021A>G	NCBI36
NG_011648.1:g.24856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3634A>G MANE Select	ENSP00000290866.4:p.Asn1212Asp
ENST00000290863.10:c.1912A>G	ENSP00000290863.6:p.Asn638Asp
ENST00000290866.9:c.3634A>G	ENSP00000290866.4:p.Asn1212Asp
ENST00000413513.7:c.1789A>G	ENSP00000392247.3:p.Asn597Asp
ENST00000428043.5:c.3634A>G	ENSP00000397593.2:p.Asn1212Asp
ENST00000577418.5:n.644A>G
ENST00000577647.2:c.1912A>G	ENSP00000464149.1:p.Asn638Asp
ENST00000578839.5:c.*1389A>G	ENSP00000462110.2:n.*1389A>G
ENST00000579314.5:c.*1363A>G	ENSP00000462599.1:n.*1363A>G
ENST00000579409.1:c.321A>G
ENST00000582244.1:n.508A>G
NM_000789.3:c.3634A>G	NP_000780.1:p.Asn1212Asp
NM_001178057.1:c.1789A>G	NP_001171528.1:p.Asn597Asp
NM_152830.2:c.1912A>G	NP_690043.1:p.Asn638Asp
XM_005257110.1:c.3085A>G	XP_005257167.1:p.Asn1029Asp
XM_006721737.2:c.1972A>G	XP_006721800.2:p.Asn658Asp
XM_006721737.3:c.1972A>G	XP_006721800.2:p.Asn658Asp
NM_000789.4:c.3634A>G MANE Select	NP_000780.1:p.Asn1212Asp
NM_001178057.2:c.1789A>G	NP_001171528.1:p.Asn597Asp
NM_152830.3:c.1912A>G	NP_690043.1:p.Asn638Asp
NM_001382700.1:c.3067A>G	NP_001369629.1:p.Asn1023Asp
NM_001382701.1:c.2782A>G	NP_001369630.1:p.Asn928Asp
NM_001382702.1:c.1249A>G	NP_001369631.1:p.Asn417Asp
NR_168483.1:n.2012A>G