Canonical Allele Identifier: CA400540854

Gene: ACE

Linked Data

• dbSNP Id: rs2049648524
• gnomAD v4: 17-63478069-G-A
• MyVariant Identifiers: chr17:g.61555430G>A (hg19) ; chr17:g.63478069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478069G>A , CM000679.2:g.63478069G>A	GRCh38
NC_000017.10:g.61555430G>A , CM000679.1:g.61555430G>A	GRCh37
NC_000017.9:g.58909162G>A	NCBI36
NG_011648.1:g.5997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.388G>A MANE Select	ENSP00000290866.4:p.Ala130Thr
ENST00000290866.9:c.388G>A	ENSP00000290866.4:p.Ala130Thr
ENST00000428043.5:c.388G>A	ENSP00000397593.2:p.Ala130Thr
ENST00000579462.1:n.413G>A
ENST00000580318.1:n.577G>A
ENST00000582627.1:c.388G>A	ENSP00000462280.1:p.Ala130Thr
ENST00000582678.5:c.388G>A	ENSP00000462995.1:p.Ala130Thr
ENST00000583336.5:n.422G>A
ENST00000584529.5:n.422G>A
NM_000789.3:c.388G>A	NP_000780.1:p.Ala130Thr
XM_005257110.1:c.-68G>A	XP_005257167.1:n.-68G>A
NM_000789.4:c.388G>A MANE Select	NP_000780.1:p.Ala130Thr
NM_001382700.1:c.153G>A	NP_001369629.1:p.Leu51=
NM_001382701.1:c.-227G>A	NP_001369630.1:n.-227G>A