Canonical Allele Identifier: CA8699944

Gene: ACE

Linked Data

• dbSNP Id: rs770923059
• ExAC: 17:61563988 A / G
• gnomAD v2: 17-61563988-A-G
• gnomAD v4: 17-63486627-A-G
• MyVariant Identifiers: chr17:g.61563988A>G (hg19) ; chr17:g.63486627A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2129A>G MANE Select	ENSP00000290866.4:p.Asn710Ser
ENST00000290863.10:c.407A>G	ENSP00000290863.6:p.Asn136Ser
ENST00000290866.9:c.2129A>G	ENSP00000290866.4:p.Asn710Ser
ENST00000413513.7:c.407A>G	ENSP00000392247.3:p.Asn136Ser
ENST00000428043.5:c.2129A>G	ENSP00000397593.2:p.Asn710Ser
ENST00000577647.2:c.407A>G	ENSP00000464149.1:p.Asn136Ser
ENST00000578839.5:c.*199A>G	ENSP00000462110.2:n.*199A>G
ENST00000579204.1:c.310A>G	ENSP00000464629.1:n.310A>G
ENST00000579314.5:c.407A>G	ENSP00000462599.1:p.Asn136Ser
ENST00000579726.5:c.691A>G
ENST00000582005.5:c.*49A>G	ENSP00000462002.1:n.*49A>G
NM_000789.3:c.2129A>G	NP_000780.1:p.Asn710Ser
NM_001178057.1:c.407A>G	NP_001171528.1:p.Asn136Ser
NM_152830.2:c.407A>G	NP_690043.1:p.Asn136Ser
XM_005257110.1:c.1580A>G	XP_005257167.1:p.Asn527Ser
XM_006721737.2:c.467A>G	XP_006721800.2:p.Asn156Ser
XM_006721737.3:c.467A>G	XP_006721800.2:p.Asn156Ser
NM_000789.4:c.2129A>G MANE Select	NP_000780.1:p.Asn710Ser
NM_001178057.2:c.407A>G	NP_001171528.1:p.Asn136Ser
NM_152830.3:c.407A>G	NP_690043.1:p.Asn136Ser
NM_001382700.1:c.1562A>G	NP_001369629.1:p.Asn521Ser
NM_001382701.1:c.1277A>G	NP_001369630.1:p.Asn426Ser
NM_001382702.1:c.59A>G	NP_001369631.1:p.Asn20Ser
NR_168483.1:n.429A>G