Canonical Allele Identifier: CA400555913

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563979T>G (hg19) ; chr17:g.63486618T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486618T>G , CM000679.2:g.63486618T>G	GRCh38
NC_000017.10:g.61563979T>G , CM000679.1:g.61563979T>G	GRCh37
NC_000017.9:g.58917711T>G	NCBI36
NG_011648.1:g.14546T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2120T>G MANE Select	ENSP00000290866.4:p.Phe707Cys
ENST00000290863.10:c.398T>G	ENSP00000290863.6:p.Phe133Cys
ENST00000290866.9:c.2120T>G	ENSP00000290866.4:p.Phe707Cys
ENST00000413513.7:c.398T>G	ENSP00000392247.3:p.Phe133Cys
ENST00000428043.5:c.2120T>G	ENSP00000397593.2:p.Phe707Cys
ENST00000577647.2:c.398T>G	ENSP00000464149.1:p.Phe133Cys
ENST00000578839.5:c.*190T>G	ENSP00000462110.2:n.*190T>G
ENST00000579204.1:c.301T>G	ENSP00000464629.1:n.301T>G
ENST00000579314.5:c.398T>G	ENSP00000462599.1:p.Phe133Cys
ENST00000579726.5:c.682T>G
ENST00000582005.5:c.*40T>G	ENSP00000462002.1:n.*40T>G
NM_000789.3:c.2120T>G	NP_000780.1:p.Phe707Cys
NM_001178057.1:c.398T>G	NP_001171528.1:p.Phe133Cys
NM_152830.2:c.398T>G	NP_690043.1:p.Phe133Cys
XM_005257110.1:c.1571T>G	XP_005257167.1:p.Phe524Cys
XM_006721737.2:c.458T>G	XP_006721800.2:p.Phe153Cys
XM_006721737.3:c.458T>G	XP_006721800.2:p.Phe153Cys
NM_000789.4:c.2120T>G MANE Select	NP_000780.1:p.Phe707Cys
NM_001178057.2:c.398T>G	NP_001171528.1:p.Phe133Cys
NM_152830.3:c.398T>G	NP_690043.1:p.Phe133Cys
NM_001382700.1:c.1553T>G	NP_001369629.1:p.Phe518Cys
NM_001382701.1:c.1268T>G	NP_001369630.1:p.Phe423Cys
NM_001382702.1:c.50T>G	NP_001369631.1:p.Phe17Cys
NR_168483.1:n.420T>G