Canonical Allele Identifier: CA400558064

Gene: ACE

Linked Data

• gnomAD v4: 17-63488777-C-A
• MyVariant Identifiers: chr17:g.61566138C>A (hg19) ; chr17:g.63488777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488777C>A , CM000679.2:g.63488777C>A	GRCh38
NC_000017.10:g.61566138C>A , CM000679.1:g.61566138C>A	GRCh37
NC_000017.9:g.58919870C>A	NCBI36
NG_011648.1:g.16705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2435C>A MANE Select	ENSP00000290866.4:p.Ala812Asp
ENST00000290863.10:c.713C>A	ENSP00000290863.6:p.Ala238Asp
ENST00000290866.9:c.2435C>A	ENSP00000290866.4:p.Ala812Asp
ENST00000413513.7:c.713C>A	ENSP00000392247.3:p.Ala238Asp
ENST00000428043.5:c.2435C>A	ENSP00000397593.2:p.Ala812Asp
ENST00000577647.2:c.713C>A	ENSP00000464149.1:p.Ala238Asp
ENST00000578839.5:c.*505C>A	ENSP00000462110.2:n.*505C>A
ENST00000579204.1:c.694C>A	ENSP00000464629.1:n.694C>A
ENST00000579314.5:c.*164C>A	ENSP00000462599.1:n.*164C>A
ENST00000582005.5:c.*355C>A	ENSP00000462002.1:n.*355C>A
ENST00000582761.1:c.203C>A	ENSP00000462909.1:p.Ala68Asp
ENST00000584865.5:n.381C>A
NM_000789.3:c.2435C>A	NP_000780.1:p.Ala812Asp
NM_001178057.1:c.713C>A	NP_001171528.1:p.Ala238Asp
NM_152830.2:c.713C>A	NP_690043.1:p.Ala238Asp
XM_005257110.1:c.1886C>A	XP_005257167.1:p.Ala629Asp
XM_006721737.2:c.773C>A	XP_006721800.2:p.Ala258Asp
XM_006721737.3:c.773C>A	XP_006721800.2:p.Ala258Asp
NM_000789.4:c.2435C>A MANE Select	NP_000780.1:p.Ala812Asp
NM_001178057.2:c.713C>A	NP_001171528.1:p.Ala238Asp
NM_152830.3:c.713C>A	NP_690043.1:p.Ala238Asp
NM_001382700.1:c.1868C>A	NP_001369629.1:p.Ala623Asp
NM_001382701.1:c.1583C>A	NP_001369630.1:p.Ala528Asp
NM_001382702.1:c.365C>A	NP_001369631.1:p.Ala122Asp
NR_168483.1:n.813C>A