Canonical Allele Identifier: CA400557934

Gene: ACE

Linked Data

• gnomAD v4: 17-63488718-C-G
• MyVariant Identifiers: chr17:g.61566079C>G (hg19) ; chr17:g.63488718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488718C>G , CM000679.2:g.63488718C>G	GRCh38
NC_000017.10:g.61566079C>G , CM000679.1:g.61566079C>G	GRCh37
NC_000017.9:g.58919811C>G	NCBI36
NG_011648.1:g.16646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2376C>G MANE Select	ENSP00000290866.4:p.Asp792Glu
ENST00000290863.10:c.654C>G	ENSP00000290863.6:p.Asp218Glu
ENST00000290866.9:c.2376C>G	ENSP00000290866.4:p.Asp792Glu
ENST00000413513.7:c.654C>G	ENSP00000392247.3:p.Asp218Glu
ENST00000428043.5:c.2376C>G	ENSP00000397593.2:p.Asp792Glu
ENST00000577647.2:c.654C>G	ENSP00000464149.1:p.Asp218Glu
ENST00000578839.5:c.*446C>G	ENSP00000462110.2:n.*446C>G
ENST00000579204.1:c.635C>G	ENSP00000464629.1:n.635C>G
ENST00000579314.5:c.*105C>G	ENSP00000462599.1:n.*105C>G
ENST00000582005.5:c.*296C>G	ENSP00000462002.1:n.*296C>G
ENST00000582761.1:c.144C>G	ENSP00000462909.1:p.Asp48Glu
ENST00000584865.5:n.322C>G
NM_000789.3:c.2376C>G	NP_000780.1:p.Asp792Glu
NM_001178057.1:c.654C>G	NP_001171528.1:p.Asp218Glu
NM_152830.2:c.654C>G	NP_690043.1:p.Asp218Glu
XM_005257110.1:c.1827C>G	XP_005257167.1:p.Asp609Glu
XM_006721737.2:c.714C>G	XP_006721800.2:p.Asp238Glu
XM_006721737.3:c.714C>G	XP_006721800.2:p.Asp238Glu
NM_000789.4:c.2376C>G MANE Select	NP_000780.1:p.Asp792Glu
NM_001178057.2:c.654C>G	NP_001171528.1:p.Asp218Glu
NM_152830.3:c.654C>G	NP_690043.1:p.Asp218Glu
NM_001382700.1:c.1809C>G	NP_001369629.1:p.Asp603Glu
NM_001382701.1:c.1524C>G	NP_001369630.1:p.Asp508Glu
NM_001382702.1:c.306C>G	NP_001369631.1:p.Asp102Glu
NR_168483.1:n.754C>G