Canonical Allele Identifier: CA400549609

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559927T>G (hg19) ; chr17:g.63482566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482566T>G , CM000679.2:g.63482566T>G	GRCh38
NC_000017.10:g.61559927T>G , CM000679.1:g.61559927T>G	GRCh37
NC_000017.9:g.58913659T>G	NCBI36
NG_011648.1:g.10494T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1219T>G MANE Select	ENSP00000290866.4:p.Ser407Ala
ENST00000290866.9:c.1219T>G	ENSP00000290866.4:p.Ser407Ala
ENST00000428043.5:c.1219T>G	ENSP00000397593.2:p.Ser407Ala
ENST00000582678.5:c.*618T>G	ENSP00000462995.1:n.*618T>G
ENST00000584529.5:n.1253T>G
NM_000789.3:c.1219T>G	NP_000780.1:p.Ser407Ala
XM_005257110.1:c.670T>G	XP_005257167.1:p.Ser224Ala
NM_000789.4:c.1219T>G MANE Select	NP_000780.1:p.Ser407Ala
NM_001382700.1:c.652T>G	NP_001369629.1:p.Ser218Ala
NM_001382701.1:c.367T>G	NP_001369630.1:p.Ser123Ala