Canonical Allele Identifier: CA400540614

Gene: ACE

Linked Data

• ClinVar Variation Id: 3136331
• ClinVar RCV Id: RCV004432196
• dbSNP Id: rs767149889
• gnomAD v2: 17-61555317-A-T
• gnomAD v4: 17-63477956-A-T
• MyVariant Identifiers: chr17:g.61555317A>T (hg19) ; chr17:g.63477956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477956A>T , CM000679.2:g.63477956A>T	GRCh38
NC_000017.10:g.61555317A>T , CM000679.1:g.61555317A>T	GRCh37
NC_000017.9:g.58909049A>T	NCBI36
NG_011648.1:g.5884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.275A>T MANE Select	ENSP00000290866.4:p.Glu92Val
ENST00000290866.9:c.275A>T	ENSP00000290866.4:p.Glu92Val
ENST00000428043.5:c.275A>T	ENSP00000397593.2:p.Glu92Val
ENST00000579462.1:n.300A>T
ENST00000580318.1:n.464A>T
ENST00000582627.1:c.275A>T	ENSP00000462280.1:p.Glu92Val
ENST00000582678.5:c.275A>T	ENSP00000462995.1:p.Glu92Val
ENST00000583336.5:n.309A>T
ENST00000584529.5:n.309A>T
NM_000789.3:c.275A>T	NP_000780.1:p.Glu92Val
XM_005257110.1:c.-181A>T	XP_005257167.1:n.-181A>T
NM_000789.4:c.275A>T MANE Select	NP_000780.1:p.Glu92Val
NM_001382700.1:c.40A>T	NP_001369629.1:p.Ser14Cys
NM_001382701.1:c.-340A>T	NP_001369630.1:n.-340A>T