Canonical Allele Identifier: CA400567908

Gene: ACE

Linked Data

• gnomAD v4: 17-63496981-C-G
• MyVariant Identifiers: chr17:g.61574342C>G (hg19) ; chr17:g.63496981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496981C>G , CM000679.2:g.63496981C>G	GRCh38
NC_000017.10:g.61574342C>G , CM000679.1:g.61574342C>G	GRCh37
NC_000017.9:g.58928074C>G	NCBI36
NG_011648.1:g.24909C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3687C>G MANE Select	ENSP00000290866.4:p.Asn1229Lys
ENST00000290863.10:c.1965C>G	ENSP00000290863.6:p.Asn655Lys
ENST00000290866.9:c.3687C>G	ENSP00000290866.4:p.Asn1229Lys
ENST00000413513.7:c.1842C>G	ENSP00000392247.3:p.Asn614Lys
ENST00000428043.5:c.3687C>G	ENSP00000397593.2:p.Asn1229Lys
ENST00000577418.5:n.697C>G
ENST00000577647.2:c.1965C>G	ENSP00000464149.1:p.Asn655Lys
ENST00000578839.5:c.*1442C>G	ENSP00000462110.2:n.*1442C>G
ENST00000579314.5:c.*1416C>G	ENSP00000462599.1:n.*1416C>G
ENST00000579409.1:c.374C>G
ENST00000582244.1:n.561C>G
NM_000789.3:c.3687C>G	NP_000780.1:p.Asn1229Lys
NM_001178057.1:c.1842C>G	NP_001171528.1:p.Asn614Lys
NM_152830.2:c.1965C>G	NP_690043.1:p.Asn655Lys
XM_005257110.1:c.3138C>G	XP_005257167.1:p.Asn1046Lys
XM_006721737.2:c.2025C>G	XP_006721800.2:p.Asn675Lys
XM_006721737.3:c.2025C>G	XP_006721800.2:p.Asn675Lys
NM_000789.4:c.3687C>G MANE Select	NP_000780.1:p.Asn1229Lys
NM_001178057.2:c.1842C>G	NP_001171528.1:p.Asn614Lys
NM_152830.3:c.1965C>G	NP_690043.1:p.Asn655Lys
NM_001382700.1:c.3120C>G	NP_001369629.1:p.Asn1040Lys
NM_001382701.1:c.2835C>G	NP_001369630.1:p.Asn945Lys
NM_001382702.1:c.1302C>G	NP_001369631.1:p.Asn434Lys
NR_168483.1:n.2065C>G