Canonical Allele Identifier: CA400548745

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559832A>T (hg19) ; chr17:g.63482471A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482471A>T , CM000679.2:g.63482471A>T	GRCh38
NC_000017.10:g.61559832A>T , CM000679.1:g.61559832A>T	GRCh37
NC_000017.9:g.58913564A>T	NCBI36
NG_011648.1:g.10399A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1124A>T MANE Select	ENSP00000290866.4:p.Lys375Met
ENST00000290866.9:c.1124A>T	ENSP00000290866.4:p.Lys375Met
ENST00000428043.5:c.1124A>T	ENSP00000397593.2:p.Lys375Met
ENST00000582678.5:c.*523A>T	ENSP00000462995.1:n.*523A>T
ENST00000584529.5:n.1158A>T
NM_000789.3:c.1124A>T	NP_000780.1:p.Lys375Met
XM_005257110.1:c.575A>T	XP_005257167.1:p.Lys192Met
NM_000789.4:c.1124A>T MANE Select	NP_000780.1:p.Lys375Met
NM_001382700.1:c.557A>T	NP_001369629.1:p.Lys186Met
NM_001382701.1:c.272A>T	NP_001369630.1:p.Lys91Met