Canonical Allele Identifier: CA400556239

Gene: ACE

Linked Data

• dbSNP Id: rs1420953232
• gnomAD v2: 17-61564036-A-T
• gnomAD v4: 17-63486675-A-T
• MyVariant Identifiers: chr17:g.61564036A>T (hg19) ; chr17:g.63486675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486675A>T , CM000679.2:g.63486675A>T	GRCh38
NC_000017.10:g.61564036A>T , CM000679.1:g.61564036A>T	GRCh37
NC_000017.9:g.58917768A>T	NCBI36
NG_011648.1:g.14603A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2177A>T MANE Select	ENSP00000290866.4:p.Asp726Val
ENST00000290863.10:c.455A>T	ENSP00000290863.6:p.Asp152Val
ENST00000290866.9:c.2177A>T	ENSP00000290866.4:p.Asp726Val
ENST00000413513.7:c.455A>T	ENSP00000392247.3:p.Asp152Val
ENST00000428043.5:c.2177A>T	ENSP00000397593.2:p.Asp726Val
ENST00000577647.2:c.455A>T	ENSP00000464149.1:p.Asp152Val
ENST00000578839.5:c.*247A>T	ENSP00000462110.2:n.*247A>T
ENST00000579204.1:c.358A>T	ENSP00000464629.1:n.358A>T
ENST00000579314.5:c.455A>T	ENSP00000462599.1:p.Asp152Val
ENST00000579726.5:c.739A>T
ENST00000582005.5:c.*97A>T	ENSP00000462002.1:n.*97A>T
NM_000789.3:c.2177A>T	NP_000780.1:p.Asp726Val
NM_001178057.1:c.455A>T	NP_001171528.1:p.Asp152Val
NM_152830.2:c.455A>T	NP_690043.1:p.Asp152Val
XM_005257110.1:c.1628A>T	XP_005257167.1:p.Asp543Val
XM_006721737.2:c.515A>T	XP_006721800.2:p.Asp172Val
XM_006721737.3:c.515A>T	XP_006721800.2:p.Asp172Val
NM_000789.4:c.2177A>T MANE Select	NP_000780.1:p.Asp726Val
NM_001178057.2:c.455A>T	NP_001171528.1:p.Asp152Val
NM_152830.3:c.455A>T	NP_690043.1:p.Asp152Val
NM_001382700.1:c.1610A>T	NP_001369629.1:p.Asp537Val
NM_001382701.1:c.1325A>T	NP_001369630.1:p.Asp442Val
NM_001382702.1:c.107A>T	NP_001369631.1:p.Asp36Val
NR_168483.1:n.477A>T