Canonical Allele Identifier: CA501184512

Gene: ACE

Linked Data

• gnomAD v4: 17-63486683-C-A
• MyVariant Identifiers: chr17:g.61564044C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486683C>A , CM000679.2:g.63486683C>A	GRCh38
NC_000017.10:g.61564044C>A , CM000679.1:g.61564044C>A	GRCh37
NC_000017.9:g.58917776C>A	NCBI36
NG_011648.1:g.14611C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2185C>A MANE Select	ENSP00000290866.4:p.Arg729=
ENST00000290863.10:c.463C>A	ENSP00000290863.6:p.Arg155=
ENST00000290866.9:c.2185C>A	ENSP00000290866.4:p.Arg729=
ENST00000413513.7:c.463C>A	ENSP00000392247.3:p.Arg155=
ENST00000428043.5:c.2185C>A	ENSP00000397593.2:p.Arg729=
ENST00000577647.2:c.463C>A	ENSP00000464149.1:p.Arg155=
ENST00000578839.5:c.*255C>A	ENSP00000462110.2:n.*255C>A
ENST00000579204.1:c.366C>A	ENSP00000464629.1:n.366C>A
ENST00000579314.5:c.463C>A	ENSP00000462599.1:p.Arg155=
ENST00000579726.5:c.747C>A
ENST00000582005.5:c.*105C>A	ENSP00000462002.1:n.*105C>A
NM_000789.3:c.2185C>A	NP_000780.1:p.Arg729=
NM_001178057.1:c.463C>A	NP_001171528.1:p.Arg155=
NM_152830.2:c.463C>A	NP_690043.1:p.Arg155=
XM_005257110.1:c.1636C>A	XP_005257167.1:p.Arg546=
XM_006721737.2:c.523C>A	XP_006721800.2:p.Arg175=
XM_006721737.3:c.523C>A	XP_006721800.2:p.Arg175=
NM_000789.4:c.2185C>A MANE Select	NP_000780.1:p.Arg729=
NM_001178057.2:c.463C>A	NP_001171528.1:p.Arg155=
NM_152830.3:c.463C>A	NP_690043.1:p.Arg155=
NM_001382700.1:c.1618C>A	NP_001369629.1:p.Arg540=
NM_001382701.1:c.1333C>A	NP_001369630.1:p.Arg445=
NM_001382702.1:c.115C>A	NP_001369631.1:p.Arg39=
NR_168483.1:n.485C>A