Canonical Allele Identifier: CA400558025

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566120T>C (hg19) ; chr17:g.63488759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488759T>C , CM000679.2:g.63488759T>C	GRCh38
NC_000017.10:g.61566120T>C , CM000679.1:g.61566120T>C	GRCh37
NC_000017.9:g.58919852T>C	NCBI36
NG_011648.1:g.16687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2417T>C MANE Select	ENSP00000290866.4:p.Val806Ala
ENST00000290863.10:c.695T>C	ENSP00000290863.6:p.Val232Ala
ENST00000290866.9:c.2417T>C	ENSP00000290866.4:p.Val806Ala
ENST00000413513.7:c.695T>C	ENSP00000392247.3:p.Val232Ala
ENST00000428043.5:c.2417T>C	ENSP00000397593.2:p.Val806Ala
ENST00000577647.2:c.695T>C	ENSP00000464149.1:p.Val232Ala
ENST00000578839.5:c.*487T>C	ENSP00000462110.2:n.*487T>C
ENST00000579204.1:c.676T>C	ENSP00000464629.1:n.676T>C
ENST00000579314.5:c.*146T>C	ENSP00000462599.1:n.*146T>C
ENST00000582005.5:c.*337T>C	ENSP00000462002.1:n.*337T>C
ENST00000582761.1:c.185T>C	ENSP00000462909.1:p.Val62Ala
ENST00000584865.5:n.363T>C
NM_000789.3:c.2417T>C	NP_000780.1:p.Val806Ala
NM_001178057.1:c.695T>C	NP_001171528.1:p.Val232Ala
NM_152830.2:c.695T>C	NP_690043.1:p.Val232Ala
XM_005257110.1:c.1868T>C	XP_005257167.1:p.Val623Ala
XM_006721737.2:c.755T>C	XP_006721800.2:p.Val252Ala
XM_006721737.3:c.755T>C	XP_006721800.2:p.Val252Ala
NM_000789.4:c.2417T>C MANE Select	NP_000780.1:p.Val806Ala
NM_001178057.2:c.695T>C	NP_001171528.1:p.Val232Ala
NM_152830.3:c.695T>C	NP_690043.1:p.Val232Ala
NM_001382700.1:c.1850T>C	NP_001369629.1:p.Val617Ala
NM_001382701.1:c.1565T>C	NP_001369630.1:p.Val522Ala
NM_001382702.1:c.347T>C	NP_001369631.1:p.Val116Ala
NR_168483.1:n.795T>C