Canonical Allele Identifier: CA501187389

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566121G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488760G>T , CM000679.2:g.63488760G>T	GRCh38
NC_000017.10:g.61566121G>T , CM000679.1:g.61566121G>T	GRCh37
NC_000017.9:g.58919853G>T	NCBI36
NG_011648.1:g.16688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2418G>T MANE Select	ENSP00000290866.4:p.Val806=
ENST00000290863.10:c.696G>T	ENSP00000290863.6:p.Val232=
ENST00000290866.9:c.2418G>T	ENSP00000290866.4:p.Val806=
ENST00000413513.7:c.696G>T	ENSP00000392247.3:p.Val232=
ENST00000428043.5:c.2418G>T	ENSP00000397593.2:p.Val806=
ENST00000577647.2:c.696G>T	ENSP00000464149.1:p.Val232=
ENST00000578839.5:c.*488G>T	ENSP00000462110.2:n.*488G>T
ENST00000579204.1:c.677G>T	ENSP00000464629.1:n.677G>T
ENST00000579314.5:c.*147G>T	ENSP00000462599.1:n.*147G>T
ENST00000582005.5:c.*338G>T	ENSP00000462002.1:n.*338G>T
ENST00000582761.1:c.186G>T	ENSP00000462909.1:p.Val62=
ENST00000584865.5:n.364G>T
NM_000789.3:c.2418G>T	NP_000780.1:p.Val806=
NM_001178057.1:c.696G>T	NP_001171528.1:p.Val232=
NM_152830.2:c.696G>T	NP_690043.1:p.Val232=
XM_005257110.1:c.1869G>T	XP_005257167.1:p.Val623=
XM_006721737.2:c.756G>T	XP_006721800.2:p.Val252=
XM_006721737.3:c.756G>T	XP_006721800.2:p.Val252=
NM_000789.4:c.2418G>T MANE Select	NP_000780.1:p.Val806=
NM_001178057.2:c.696G>T	NP_001171528.1:p.Val232=
NM_152830.3:c.696G>T	NP_690043.1:p.Val232=
NM_001382700.1:c.1851G>T	NP_001369629.1:p.Val617=
NM_001382701.1:c.1566G>T	NP_001369630.1:p.Val522=
NM_001382702.1:c.348G>T	NP_001369631.1:p.Val116=
NR_168483.1:n.796G>T