Canonical Allele Identifier: CA8699032

Gene: ACE

Linked Data

• dbSNP Id: rs752416873
• ExAC: 17:61555445 G / A
• gnomAD v2: 17-61555445-G-A
• gnomAD v3: 17-63478084-G-A
• gnomAD v4: 17-63478084-G-A
• MyVariant Identifiers: chr17:g.61555445G>A (hg19) ; chr17:g.63478084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478084G>A , CM000679.2:g.63478084G>A	GRCh38
NC_000017.10:g.61555445G>A , CM000679.1:g.61555445G>A	GRCh37
NC_000017.9:g.58909177G>A	NCBI36
NG_011648.1:g.6012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.403G>A MANE Select	ENSP00000290866.4:p.Ala135Thr
ENST00000290866.9:c.403G>A	ENSP00000290866.4:p.Ala135Thr
ENST00000428043.5:c.403G>A	ENSP00000397593.2:p.Ala135Thr
ENST00000579462.1:n.428G>A
ENST00000580318.1:n.592G>A
ENST00000582627.1:c.403G>A	ENSP00000462280.1:p.Ala135Thr
ENST00000582678.5:c.403G>A	ENSP00000462995.1:p.Ala135Thr
ENST00000583336.5:n.437G>A
ENST00000584529.5:n.437G>A
NM_000789.3:c.403G>A	NP_000780.1:p.Ala135Thr
XM_005257110.1:c.-53G>A	XP_005257167.1:n.-53G>A
NM_000789.4:c.403G>A MANE Select	NP_000780.1:p.Ala135Thr
NM_001382700.1:c.168G>A	NP_001369629.1:p.Trp56Ter
NM_001382701.1:c.-212G>A	NP_001369630.1:n.-212G>A