Canonical Allele Identifier: CA400558170

Gene: ACE

Linked Data

• dbSNP Id: rs2030184791
• gnomAD v4: 17-63488966-G-A
• MyVariant Identifiers: chr17:g.61566327G>A (hg19) ; chr17:g.63488966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488966G>A , CM000679.2:g.63488966G>A	GRCh38
NC_000017.10:g.61566327G>A , CM000679.1:g.61566327G>A	GRCh37
NC_000017.9:g.58920059G>A	NCBI36
NG_011648.1:g.16894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2475G>A MANE Select	ENSP00000290866.4:p.Trp825Ter
ENST00000290863.10:c.753G>A	ENSP00000290863.6:p.Trp251Ter
ENST00000290866.9:c.2475G>A	ENSP00000290866.4:p.Trp825Ter
ENST00000413513.7:c.753G>A	ENSP00000392247.3:p.Trp251Ter
ENST00000428043.5:c.2475G>A	ENSP00000397593.2:p.Trp825Ter
ENST00000577647.2:c.753G>A	ENSP00000464149.1:p.Trp251Ter
ENST00000578839.5:c.*519+175G>A	ENSP00000462110.2:n.*519+175G>A
ENST00000579204.1:c.734G>A	ENSP00000464629.1:n.734G>A
ENST00000579314.5:c.*204G>A	ENSP00000462599.1:n.*204G>A
ENST00000582005.5:c.*395G>A	ENSP00000462002.1:n.*395G>A
ENST00000582761.1:c.243G>A	ENSP00000462909.1:p.Trp81Ter
ENST00000584865.5:n.421G>A
NM_000789.3:c.2475G>A	NP_000780.1:p.Trp825Ter
NM_001178057.1:c.753G>A	NP_001171528.1:p.Trp251Ter
NM_152830.2:c.753G>A	NP_690043.1:p.Trp251Ter
XM_005257110.1:c.1926G>A	XP_005257167.1:p.Trp642Ter
XM_006721737.2:c.813G>A	XP_006721800.2:p.Trp271Ter
XM_006721737.3:c.813G>A	XP_006721800.2:p.Trp271Ter
NM_000789.4:c.2475G>A MANE Select	NP_000780.1:p.Trp825Ter
NM_001178057.2:c.753G>A	NP_001171528.1:p.Trp251Ter
NM_152830.3:c.753G>A	NP_690043.1:p.Trp251Ter
NM_001382700.1:c.1908G>A	NP_001369629.1:p.Trp636Ter
NM_001382701.1:c.1623G>A	NP_001369630.1:p.Trp541Ter
NM_001382702.1:c.379+175G>A	NP_001369631.1:n.379+175G>A
NR_168483.1:n.853G>A