Canonical Allele Identifier: CA400568998

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574618T>A (hg19) ; chr17:g.63497257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497257T>A , CM000679.2:g.63497257T>A	GRCh38
NC_000017.10:g.61574618T>A , CM000679.1:g.61574618T>A	GRCh37
NC_000017.9:g.58928350T>A	NCBI36
NG_011648.1:g.25185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3812T>A MANE Select	ENSP00000290866.4:p.Val1271Glu
ENST00000290863.10:c.2090T>A	ENSP00000290863.6:p.Val697Glu
ENST00000290866.9:c.3812T>A	ENSP00000290866.4:p.Val1271Glu
ENST00000413513.7:c.1967T>A	ENSP00000392247.3:p.Val656Glu
ENST00000428043.5:c.*234T>A	ENSP00000397593.2:n.*234T>A
ENST00000577647.2:c.1969+272T>A	ENSP00000464149.1:n.1969+272T>A
ENST00000578839.5:c.*1567T>A	ENSP00000462110.2:n.*1567T>A
ENST00000579314.5:c.*1541T>A	ENSP00000462599.1:n.*1541T>A
NM_000789.3:c.3812T>A	NP_000780.1:p.Val1271Glu
NM_001178057.1:c.1967T>A	NP_001171528.1:p.Val656Glu
NM_152830.2:c.2090T>A	NP_690043.1:p.Val697Glu
XM_005257110.1:c.3263T>A	XP_005257167.1:p.Val1088Glu
XM_006721737.2:c.2150T>A	XP_006721800.2:p.Val717Glu
XM_006721737.3:c.2150T>A	XP_006721800.2:p.Val717Glu
NM_000789.4:c.3812T>A MANE Select	NP_000780.1:p.Val1271Glu
NM_001178057.2:c.1967T>A	NP_001171528.1:p.Val656Glu
NM_152830.3:c.2090T>A	NP_690043.1:p.Val697Glu
NM_001382700.1:c.3245T>A	NP_001369629.1:p.Val1082Glu
NM_001382701.1:c.2960T>A	NP_001369630.1:p.Val987Glu
NM_001382702.1:c.1427T>A	NP_001369631.1:p.Val476Glu
NR_168483.1:n.2190T>A