Canonical Allele Identifier: CA400544513

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480442T>C , CM000679.2:g.63480442T>C	GRCh38
NC_000017.10:g.61557803T>C , CM000679.1:g.61557803T>C	GRCh37
NC_000017.9:g.58911535T>C	NCBI36
NG_011648.1:g.8370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.761T>C MANE Select	ENSP00000290866.4:p.Leu254Pro
ENST00000290866.9:c.761T>C	ENSP00000290866.4:p.Leu254Pro
ENST00000428043.5:c.761T>C	ENSP00000397593.2:p.Leu254Pro
ENST00000582627.1:c.761T>C	ENSP00000462280.1:p.Leu254Pro
ENST00000582678.5:c.*160T>C	ENSP00000462995.1:n.*160T>C
ENST00000584529.5:n.795T>C
NM_000789.3:c.761T>C	NP_000780.1:p.Leu254Pro
XM_005257110.1:c.212T>C	XP_005257167.1:p.Leu71Pro
NM_000789.4:c.761T>C MANE Select	NP_000780.1:p.Leu254Pro
NM_001382700.1:c.288T>C	NP_001369629.1:p.Pro96=
NM_001382701.1:c.-92T>C	NP_001369630.1:n.-92T>C