Canonical Allele Identifier: CA400558133

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566308T>A (hg19) ; chr17:g.63488947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488947T>A , CM000679.2:g.63488947T>A	GRCh38
NC_000017.10:g.61566308T>A , CM000679.1:g.61566308T>A	GRCh37
NC_000017.9:g.58920040T>A	NCBI36
NG_011648.1:g.16875T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2456T>A MANE Select	ENSP00000290866.4:p.Val819Glu
ENST00000290863.10:c.734T>A	ENSP00000290863.6:p.Val245Glu
ENST00000290866.9:c.2456T>A	ENSP00000290866.4:p.Val819Glu
ENST00000413513.7:c.734T>A	ENSP00000392247.3:p.Val245Glu
ENST00000428043.5:c.2456T>A	ENSP00000397593.2:p.Val819Glu
ENST00000577647.2:c.734T>A	ENSP00000464149.1:p.Val245Glu
ENST00000578839.5:c.*519+156T>A	ENSP00000462110.2:n.*519+156T>A
ENST00000579204.1:c.715T>A	ENSP00000464629.1:n.715T>A
ENST00000579314.5:c.*185T>A	ENSP00000462599.1:n.*185T>A
ENST00000582005.5:c.*376T>A	ENSP00000462002.1:n.*376T>A
ENST00000582761.1:c.224T>A	ENSP00000462909.1:p.Val75Glu
ENST00000584865.5:n.402T>A
NM_000789.3:c.2456T>A	NP_000780.1:p.Val819Glu
NM_001178057.1:c.734T>A	NP_001171528.1:p.Val245Glu
NM_152830.2:c.734T>A	NP_690043.1:p.Val245Glu
XM_005257110.1:c.1907T>A	XP_005257167.1:p.Val636Glu
XM_006721737.2:c.794T>A	XP_006721800.2:p.Val265Glu
XM_006721737.3:c.794T>A	XP_006721800.2:p.Val265Glu
NM_000789.4:c.2456T>A MANE Select	NP_000780.1:p.Val819Glu
NM_001178057.2:c.734T>A	NP_001171528.1:p.Val245Glu
NM_152830.3:c.734T>A	NP_690043.1:p.Val245Glu
NM_001382700.1:c.1889T>A	NP_001369629.1:p.Val630Glu
NM_001382701.1:c.1604T>A	NP_001369630.1:p.Val535Glu
NM_001382702.1:c.379+156T>A	NP_001369631.1:n.379+156T>A
NR_168483.1:n.834T>A