Canonical Allele Identifier: CA400548726

Gene: ACE

Linked Data

• gnomAD v4: 17-63482470-A-G
• MyVariant Identifiers: chr17:g.61559831A>G (hg19) ; chr17:g.63482470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482470A>G , CM000679.2:g.63482470A>G	GRCh38
NC_000017.10:g.61559831A>G , CM000679.1:g.61559831A>G	GRCh37
NC_000017.9:g.58913563A>G	NCBI36
NG_011648.1:g.10398A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1123A>G MANE Select	ENSP00000290866.4:p.Lys375Glu
ENST00000290866.9:c.1123A>G	ENSP00000290866.4:p.Lys375Glu
ENST00000428043.5:c.1123A>G	ENSP00000397593.2:p.Lys375Glu
ENST00000582678.5:c.*522A>G	ENSP00000462995.1:n.*522A>G
ENST00000584529.5:n.1157A>G
NM_000789.3:c.1123A>G	NP_000780.1:p.Lys375Glu
XM_005257110.1:c.574A>G	XP_005257167.1:p.Lys192Glu
NM_000789.4:c.1123A>G MANE Select	NP_000780.1:p.Lys375Glu
NM_001382700.1:c.556A>G	NP_001369629.1:p.Lys186Glu
NM_001382701.1:c.271A>G	NP_001369630.1:p.Lys91Glu