Canonical Allele Identifier: CA400540789

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61555392T>G (hg19) ; chr17:g.63478031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478031T>G , CM000679.2:g.63478031T>G	GRCh38
NC_000017.10:g.61555392T>G , CM000679.1:g.61555392T>G	GRCh37
NC_000017.9:g.58909124T>G	NCBI36
NG_011648.1:g.5959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.350T>G MANE Select	ENSP00000290866.4:p.Leu117Arg
ENST00000290866.9:c.350T>G	ENSP00000290866.4:p.Leu117Arg
ENST00000428043.5:c.350T>G	ENSP00000397593.2:p.Leu117Arg
ENST00000579462.1:n.375T>G
ENST00000580318.1:n.539T>G
ENST00000582627.1:c.350T>G	ENSP00000462280.1:p.Leu117Arg
ENST00000582678.5:c.350T>G	ENSP00000462995.1:p.Leu117Arg
ENST00000583336.5:n.384T>G
ENST00000584529.5:n.384T>G
NM_000789.3:c.350T>G	NP_000780.1:p.Leu117Arg
XM_005257110.1:c.-106T>G	XP_005257167.1:n.-106T>G
NM_000789.4:c.350T>G MANE Select	NP_000780.1:p.Leu117Arg
NM_001382700.1:c.115T>G	NP_001369629.1:p.Cys39Gly
NM_001382701.1:c.-265T>G	NP_001369630.1:n.-265T>G