Canonical Allele Identifier: CA501187125

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566091A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488730A>G , CM000679.2:g.63488730A>G	GRCh38
NC_000017.10:g.61566091A>G , CM000679.1:g.61566091A>G	GRCh37
NC_000017.9:g.58919823A>G	NCBI36
NG_011648.1:g.16658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2388A>G MANE Select	ENSP00000290866.4:p.Arg796=
ENST00000290863.10:c.666A>G	ENSP00000290863.6:p.Arg222=
ENST00000290866.9:c.2388A>G	ENSP00000290866.4:p.Arg796=
ENST00000413513.7:c.666A>G	ENSP00000392247.3:p.Arg222=
ENST00000428043.5:c.2388A>G	ENSP00000397593.2:p.Arg796=
ENST00000577647.2:c.666A>G	ENSP00000464149.1:p.Arg222=
ENST00000578839.5:c.*458A>G	ENSP00000462110.2:n.*458A>G
ENST00000579204.1:c.647A>G	ENSP00000464629.1:n.647A>G
ENST00000579314.5:c.*117A>G	ENSP00000462599.1:n.*117A>G
ENST00000582005.5:c.*308A>G	ENSP00000462002.1:n.*308A>G
ENST00000582761.1:c.156A>G	ENSP00000462909.1:p.Arg52=
ENST00000584865.5:n.334A>G
NM_000789.3:c.2388A>G	NP_000780.1:p.Arg796=
NM_001178057.1:c.666A>G	NP_001171528.1:p.Arg222=
NM_152830.2:c.666A>G	NP_690043.1:p.Arg222=
XM_005257110.1:c.1839A>G	XP_005257167.1:p.Arg613=
XM_006721737.2:c.726A>G	XP_006721800.2:p.Arg242=
XM_006721737.3:c.726A>G	XP_006721800.2:p.Arg242=
NM_000789.4:c.2388A>G MANE Select	NP_000780.1:p.Arg796=
NM_001178057.2:c.666A>G	NP_001171528.1:p.Arg222=
NM_152830.3:c.666A>G	NP_690043.1:p.Arg222=
NM_001382700.1:c.1821A>G	NP_001369629.1:p.Arg607=
NM_001382701.1:c.1536A>G	NP_001369630.1:p.Arg512=
NM_001382702.1:c.318A>G	NP_001369631.1:p.Arg106=
NR_168483.1:n.766A>G