Canonical Allele Identifier: CA400558050

Gene: ACE

Linked Data

• dbSNP Id: rs1206246426
• gnomAD v2: 17-61566132-A-G
• MyVariant Identifiers: chr17:g.61566132A>G (hg19) ; chr17:g.63488771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488771A>G , CM000679.2:g.63488771A>G	GRCh38
NC_000017.10:g.61566132A>G , CM000679.1:g.61566132A>G	GRCh37
NC_000017.9:g.58919864A>G	NCBI36
NG_011648.1:g.16699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2429A>G MANE Select	ENSP00000290866.4:p.Asn810Ser
ENST00000290863.10:c.707A>G	ENSP00000290863.6:p.Asn236Ser
ENST00000290866.9:c.2429A>G	ENSP00000290866.4:p.Asn810Ser
ENST00000413513.7:c.707A>G	ENSP00000392247.3:p.Asn236Ser
ENST00000428043.5:c.2429A>G	ENSP00000397593.2:p.Asn810Ser
ENST00000577647.2:c.707A>G	ENSP00000464149.1:p.Asn236Ser
ENST00000578839.5:c.*499A>G	ENSP00000462110.2:n.*499A>G
ENST00000579204.1:c.688A>G	ENSP00000464629.1:n.688A>G
ENST00000579314.5:c.*158A>G	ENSP00000462599.1:n.*158A>G
ENST00000582005.5:c.*349A>G	ENSP00000462002.1:n.*349A>G
ENST00000582761.1:c.197A>G	ENSP00000462909.1:p.Asn66Ser
ENST00000584865.5:n.375A>G
NM_000789.3:c.2429A>G	NP_000780.1:p.Asn810Ser
NM_001178057.1:c.707A>G	NP_001171528.1:p.Asn236Ser
NM_152830.2:c.707A>G	NP_690043.1:p.Asn236Ser
XM_005257110.1:c.1880A>G	XP_005257167.1:p.Asn627Ser
XM_006721737.2:c.767A>G	XP_006721800.2:p.Asn256Ser
XM_006721737.3:c.767A>G	XP_006721800.2:p.Asn256Ser
NM_000789.4:c.2429A>G MANE Select	NP_000780.1:p.Asn810Ser
NM_001178057.2:c.707A>G	NP_001171528.1:p.Asn236Ser
NM_152830.3:c.707A>G	NP_690043.1:p.Asn236Ser
NM_001382700.1:c.1862A>G	NP_001369629.1:p.Asn621Ser
NM_001382701.1:c.1577A>G	NP_001369630.1:p.Asn526Ser
NM_001382702.1:c.359A>G	NP_001369631.1:p.Asn120Ser
NR_168483.1:n.807A>G