Canonical Allele Identifier: CA400548705

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559828A>G (hg19) ; chr17:g.63482467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482467A>G , CM000679.2:g.63482467A>G	GRCh38
NC_000017.10:g.61559828A>G , CM000679.1:g.61559828A>G	GRCh37
NC_000017.9:g.58913560A>G	NCBI36
NG_011648.1:g.10395A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1120A>G MANE Select	ENSP00000290866.4:p.Ile374Val
ENST00000290866.9:c.1120A>G	ENSP00000290866.4:p.Ile374Val
ENST00000428043.5:c.1120A>G	ENSP00000397593.2:p.Ile374Val
ENST00000582678.5:c.*519A>G	ENSP00000462995.1:n.*519A>G
ENST00000584529.5:n.1154A>G
NM_000789.3:c.1120A>G	NP_000780.1:p.Ile374Val
XM_005257110.1:c.571A>G	XP_005257167.1:p.Ile191Val
NM_000789.4:c.1120A>G MANE Select	NP_000780.1:p.Ile374Val
NM_001382700.1:c.553A>G	NP_001369629.1:p.Ile185Val
NM_001382701.1:c.268A>G	NP_001369630.1:p.Ile90Val