Canonical Allele Identifier: CA400557872

Gene: ACE

Linked Data

• dbSNP Id: rs1368706438
• gnomAD v2: 17-61566050-C-G
• gnomAD v3: 17-63488689-C-G
• gnomAD v4: 17-63488689-C-G
• MyVariant Identifiers: chr17:g.61566050C>G (hg19) ; chr17:g.63488689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488689C>G , CM000679.2:g.63488689C>G	GRCh38
NC_000017.10:g.61566050C>G , CM000679.1:g.61566050C>G	GRCh37
NC_000017.9:g.58919782C>G	NCBI36
NG_011648.1:g.16617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2347C>G MANE Select	ENSP00000290866.4:p.Leu783Val
ENST00000290863.10:c.625C>G	ENSP00000290863.6:p.Leu209Val
ENST00000290866.9:c.2347C>G	ENSP00000290866.4:p.Leu783Val
ENST00000413513.7:c.625C>G	ENSP00000392247.3:p.Leu209Val
ENST00000428043.5:c.2347C>G	ENSP00000397593.2:p.Leu783Val
ENST00000577647.2:c.625C>G	ENSP00000464149.1:p.Leu209Val
ENST00000578839.5:c.*417C>G	ENSP00000462110.2:n.*417C>G
ENST00000579204.1:c.606C>G	ENSP00000464629.1:n.606C>G
ENST00000579314.5:c.*76C>G	ENSP00000462599.1:n.*76C>G
ENST00000582005.5:c.*267C>G	ENSP00000462002.1:n.*267C>G
ENST00000582761.1:c.115C>G	ENSP00000462909.1:p.Leu39Val
ENST00000584865.5:n.293C>G
NM_000789.3:c.2347C>G	NP_000780.1:p.Leu783Val
NM_001178057.1:c.625C>G	NP_001171528.1:p.Leu209Val
NM_152830.2:c.625C>G	NP_690043.1:p.Leu209Val
XM_005257110.1:c.1798C>G	XP_005257167.1:p.Leu600Val
XM_006721737.2:c.685C>G	XP_006721800.2:p.Leu229Val
XM_006721737.3:c.685C>G	XP_006721800.2:p.Leu229Val
NM_000789.4:c.2347C>G MANE Select	NP_000780.1:p.Leu783Val
NM_001178057.2:c.625C>G	NP_001171528.1:p.Leu209Val
NM_152830.3:c.625C>G	NP_690043.1:p.Leu209Val
NM_001382700.1:c.1780C>G	NP_001369629.1:p.Leu594Val
NM_001382701.1:c.1495C>G	NP_001369630.1:p.Leu499Val
NM_001382702.1:c.277C>G	NP_001369631.1:p.Leu93Val
NR_168483.1:n.725C>G