Canonical Allele Identifier: CA400556866

Gene: ACE

Linked Data

• gnomAD v4: 17-63487047-A-G
• MyVariant Identifiers: chr17:g.61564408A>G (hg19) ; chr17:g.63487047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487047A>G , CM000679.2:g.63487047A>G	GRCh38
NC_000017.10:g.61564408A>G , CM000679.1:g.61564408A>G	GRCh37
NC_000017.9:g.58918140A>G	NCBI36
NG_011648.1:g.14975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2279A>G MANE Select	ENSP00000290866.4:p.Asn760Ser
ENST00000290863.10:c.557A>G	ENSP00000290863.6:p.Asn186Ser
ENST00000290866.9:c.2279A>G	ENSP00000290866.4:p.Asn760Ser
ENST00000413513.7:c.557A>G	ENSP00000392247.3:p.Asn186Ser
ENST00000428043.5:c.2279A>G	ENSP00000397593.2:p.Asn760Ser
ENST00000577647.2:c.557A>G	ENSP00000464149.1:p.Asn186Ser
ENST00000578839.5:c.*349A>G	ENSP00000462110.2:n.*349A>G
ENST00000579204.1:c.460A>G	ENSP00000464629.1:n.460A>G
ENST00000579314.5:c.557A>G	ENSP00000462599.1:p.Asn186Ser
ENST00000579726.5:c.841A>G
ENST00000582005.5:c.*199A>G	ENSP00000462002.1:n.*199A>G
ENST00000582761.1:c.47A>G	ENSP00000462909.1:p.Asn16Ser
ENST00000584865.5:n.225A>G
NM_000789.3:c.2279A>G	NP_000780.1:p.Asn760Ser
NM_001178057.1:c.557A>G	NP_001171528.1:p.Asn186Ser
NM_152830.2:c.557A>G	NP_690043.1:p.Asn186Ser
XM_005257110.1:c.1730A>G	XP_005257167.1:p.Asn577Ser
XM_006721737.2:c.617A>G	XP_006721800.2:p.Asn206Ser
XM_006721737.3:c.617A>G	XP_006721800.2:p.Asn206Ser
NM_000789.4:c.2279A>G MANE Select	NP_000780.1:p.Asn760Ser
NM_001178057.2:c.557A>G	NP_001171528.1:p.Asn186Ser
NM_152830.3:c.557A>G	NP_690043.1:p.Asn186Ser
NM_001382700.1:c.1712A>G	NP_001369629.1:p.Asn571Ser
NM_001382701.1:c.1427A>G	NP_001369630.1:p.Asn476Ser
NM_001382702.1:c.209A>G	NP_001369631.1:p.Asn70Ser
NR_168483.1:n.579A>G