Canonical Allele Identifier: CA501184194

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563980T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486619T>C , CM000679.2:g.63486619T>C	GRCh38
NC_000017.10:g.61563980T>C , CM000679.1:g.61563980T>C	GRCh37
NC_000017.9:g.58917712T>C	NCBI36
NG_011648.1:g.14547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2121T>C MANE Select	ENSP00000290866.4:p.Phe707=
ENST00000290863.10:c.399T>C	ENSP00000290863.6:p.Phe133=
ENST00000290866.9:c.2121T>C	ENSP00000290866.4:p.Phe707=
ENST00000413513.7:c.399T>C	ENSP00000392247.3:p.Phe133=
ENST00000428043.5:c.2121T>C	ENSP00000397593.2:p.Phe707=
ENST00000577647.2:c.399T>C	ENSP00000464149.1:p.Phe133=
ENST00000578839.5:c.*191T>C	ENSP00000462110.2:n.*191T>C
ENST00000579204.1:c.302T>C	ENSP00000464629.1:n.302T>C
ENST00000579314.5:c.399T>C	ENSP00000462599.1:p.Phe133=
ENST00000579726.5:c.683T>C
ENST00000582005.5:c.*41T>C	ENSP00000462002.1:n.*41T>C
NM_000789.3:c.2121T>C	NP_000780.1:p.Phe707=
NM_001178057.1:c.399T>C	NP_001171528.1:p.Phe133=
NM_152830.2:c.399T>C	NP_690043.1:p.Phe133=
XM_005257110.1:c.1572T>C	XP_005257167.1:p.Phe524=
XM_006721737.2:c.459T>C	XP_006721800.2:p.Phe153=
XM_006721737.3:c.459T>C	XP_006721800.2:p.Phe153=
NM_000789.4:c.2121T>C MANE Select	NP_000780.1:p.Phe707=
NM_001178057.2:c.399T>C	NP_001171528.1:p.Phe133=
NM_152830.3:c.399T>C	NP_690043.1:p.Phe133=
NM_001382700.1:c.1554T>C	NP_001369629.1:p.Phe518=
NM_001382701.1:c.1269T>C	NP_001369630.1:p.Phe423=
NM_001382702.1:c.51T>C	NP_001369631.1:p.Phe17=
NR_168483.1:n.421T>C