Canonical Allele Identifier: CA400557836

Gene: ACE

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488672C>T , CM000679.2:g.63488672C>T	GRCh38
NC_000017.10:g.61566033C>T , CM000679.1:g.61566033C>T	GRCh37
NC_000017.9:g.58919765C>T	NCBI36
NG_011648.1:g.16600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2330C>T MANE Select	ENSP00000290866.4:p.Ser777Phe
ENST00000290863.10:c.608C>T	ENSP00000290863.6:p.Ser203Phe
ENST00000290866.9:c.2330C>T	ENSP00000290866.4:p.Ser777Phe
ENST00000413513.7:c.608C>T	ENSP00000392247.3:p.Ser203Phe
ENST00000428043.5:c.2330C>T	ENSP00000397593.2:p.Ser777Phe
ENST00000577647.2:c.608C>T	ENSP00000464149.1:p.Ser203Phe
ENST00000578839.5:c.*400C>T	ENSP00000462110.2:n.*400C>T
ENST00000579204.1:c.589C>T	ENSP00000464629.1:n.589C>T
ENST00000579314.5:c.*59C>T	ENSP00000462599.1:n.*59C>T
ENST00000582005.5:c.*250C>T	ENSP00000462002.1:n.*250C>T
ENST00000582761.1:c.98C>T	ENSP00000462909.1:p.Ser33Phe
ENST00000584865.5:n.276C>T
NM_000789.3:c.2330C>T	NP_000780.1:p.Ser777Phe
NM_001178057.1:c.608C>T	NP_001171528.1:p.Ser203Phe
NM_152830.2:c.608C>T	NP_690043.1:p.Ser203Phe
XM_005257110.1:c.1781C>T	XP_005257167.1:p.Ser594Phe
XM_006721737.2:c.668C>T	XP_006721800.2:p.Ser223Phe
XM_006721737.3:c.668C>T	XP_006721800.2:p.Ser223Phe
NM_000789.4:c.2330C>T MANE Select	NP_000780.1:p.Ser777Phe
NM_001178057.2:c.608C>T	NP_001171528.1:p.Ser203Phe
NM_152830.3:c.608C>T	NP_690043.1:p.Ser203Phe
NM_001382700.1:c.1763C>T	NP_001369629.1:p.Ser588Phe
NM_001382701.1:c.1478C>T	NP_001369630.1:p.Ser493Phe
NM_001382702.1:c.260C>T	NP_001369631.1:p.Ser87Phe
NR_168483.1:n.708C>T