Canonical Allele Identifier: CA400556345

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564056C>T (hg19) ; chr17:g.63486695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486695C>T , CM000679.2:g.63486695C>T	GRCh38
NC_000017.10:g.61564056C>T , CM000679.1:g.61564056C>T	GRCh37
NC_000017.9:g.58917788C>T	NCBI36
NG_011648.1:g.14623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2197C>T MANE Select	ENSP00000290866.4:p.Pro733Ser
ENST00000290863.10:c.475C>T	ENSP00000290863.6:p.Pro159Ser
ENST00000290866.9:c.2197C>T	ENSP00000290866.4:p.Pro733Ser
ENST00000413513.7:c.475C>T	ENSP00000392247.3:p.Pro159Ser
ENST00000428043.5:c.2197C>T	ENSP00000397593.2:p.Pro733Ser
ENST00000577647.2:c.475C>T	ENSP00000464149.1:p.Pro159Ser
ENST00000578839.5:c.*267C>T	ENSP00000462110.2:n.*267C>T
ENST00000579204.1:c.378C>T	ENSP00000464629.1:n.378C>T
ENST00000579314.5:c.475C>T	ENSP00000462599.1:p.Pro159Ser
ENST00000579726.5:c.759C>T
ENST00000582005.5:c.*117C>T	ENSP00000462002.1:n.*117C>T
NM_000789.3:c.2197C>T	NP_000780.1:p.Pro733Ser
NM_001178057.1:c.475C>T	NP_001171528.1:p.Pro159Ser
NM_152830.2:c.475C>T	NP_690043.1:p.Pro159Ser
XM_005257110.1:c.1648C>T	XP_005257167.1:p.Pro550Ser
XM_006721737.2:c.535C>T	XP_006721800.2:p.Pro179Ser
XM_006721737.3:c.535C>T	XP_006721800.2:p.Pro179Ser
NM_000789.4:c.2197C>T MANE Select	NP_000780.1:p.Pro733Ser
NM_001178057.2:c.475C>T	NP_001171528.1:p.Pro159Ser
NM_152830.3:c.475C>T	NP_690043.1:p.Pro159Ser
NM_001382700.1:c.1630C>T	NP_001369629.1:p.Pro544Ser
NM_001382701.1:c.1345C>T	NP_001369630.1:p.Pro449Ser
NM_001382702.1:c.127C>T	NP_001369631.1:p.Pro43Ser
NR_168483.1:n.497C>T