Canonical Allele Identifier: CA400555971

Gene: ACE

Linked Data

• dbSNP Id: rs770923059
• gnomAD v3: 17-63486627-A-T
• gnomAD v4: 17-63486627-A-T
• MyVariant Identifiers: chr17:g.61563988A>T (hg19) ; chr17:g.63486627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486627A>T , CM000679.2:g.63486627A>T	GRCh38
NC_000017.10:g.61563988A>T , CM000679.1:g.61563988A>T	GRCh37
NC_000017.9:g.58917720A>T	NCBI36
NG_011648.1:g.14555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2129A>T MANE Select	ENSP00000290866.4:p.Asn710Ile
ENST00000290863.10:c.407A>T	ENSP00000290863.6:p.Asn136Ile
ENST00000290866.9:c.2129A>T	ENSP00000290866.4:p.Asn710Ile
ENST00000413513.7:c.407A>T	ENSP00000392247.3:p.Asn136Ile
ENST00000428043.5:c.2129A>T	ENSP00000397593.2:p.Asn710Ile
ENST00000577647.2:c.407A>T	ENSP00000464149.1:p.Asn136Ile
ENST00000578839.5:c.*199A>T	ENSP00000462110.2:n.*199A>T
ENST00000579204.1:c.310A>T	ENSP00000464629.1:n.310A>T
ENST00000579314.5:c.407A>T	ENSP00000462599.1:p.Asn136Ile
ENST00000579726.5:c.691A>T
ENST00000582005.5:c.*49A>T	ENSP00000462002.1:n.*49A>T
NM_000789.3:c.2129A>T	NP_000780.1:p.Asn710Ile
NM_001178057.1:c.407A>T	NP_001171528.1:p.Asn136Ile
NM_152830.2:c.407A>T	NP_690043.1:p.Asn136Ile
XM_005257110.1:c.1580A>T	XP_005257167.1:p.Asn527Ile
XM_006721737.2:c.467A>T	XP_006721800.2:p.Asn156Ile
XM_006721737.3:c.467A>T	XP_006721800.2:p.Asn156Ile
NM_000789.4:c.2129A>T MANE Select	NP_000780.1:p.Asn710Ile
NM_001178057.2:c.407A>T	NP_001171528.1:p.Asn136Ile
NM_152830.3:c.407A>T	NP_690043.1:p.Asn136Ile
NM_001382700.1:c.1562A>T	NP_001369629.1:p.Asn521Ile
NM_001382701.1:c.1277A>T	NP_001369630.1:p.Asn426Ile
NM_001382702.1:c.59A>T	NP_001369631.1:p.Asn20Ile
NR_168483.1:n.429A>T