Canonical Allele Identifier: CA8699997

Gene: ACE

Linked Data

• ClinVar Variation Id: 324391
• ClinVar RCV Id: RCV000376190 ; RCV001355158 ; RCV002487423
• dbSNP Id: rs148995315
• ExAC: 17:61564428 G / A
• gnomAD v2: 17-61564428-G-A
• gnomAD v3: 17-63487067-G-A
• gnomAD v4: 17-63487067-G-A
• MyVariant Identifiers: chr17:g.61564428G>A (hg19) ; chr17:g.63487067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487067G>A , CM000679.2:g.63487067G>A	GRCh38
NC_000017.10:g.61564428G>A , CM000679.1:g.61564428G>A	GRCh37
NC_000017.9:g.58918160G>A	NCBI36
NG_011648.1:g.14995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2299G>A MANE Select	ENSP00000290866.4:p.Glu767Lys
ENST00000290863.10:c.577G>A	ENSP00000290863.6:p.Glu193Lys
ENST00000290866.9:c.2299G>A	ENSP00000290866.4:p.Glu767Lys
ENST00000413513.7:c.577G>A	ENSP00000392247.3:p.Glu193Lys
ENST00000428043.5:c.2299G>A	ENSP00000397593.2:p.Glu767Lys
ENST00000577647.2:c.577G>A	ENSP00000464149.1:p.Glu193Lys
ENST00000578839.5:c.*369G>A	ENSP00000462110.2:n.*369G>A
ENST00000579204.1:c.480G>A	ENSP00000464629.1:n.480G>A
ENST00000579314.5:c.577G>A	ENSP00000462599.1:p.Glu193Lys
ENST00000579726.5:c.861G>A
ENST00000582005.5:c.*219G>A	ENSP00000462002.1:n.*219G>A
ENST00000582761.1:c.67G>A	ENSP00000462909.1:p.Glu23Lys
ENST00000584865.5:n.245G>A
NM_000789.3:c.2299G>A	NP_000780.1:p.Glu767Lys
NM_001178057.1:c.577G>A	NP_001171528.1:p.Glu193Lys
NM_152830.2:c.577G>A	NP_690043.1:p.Glu193Lys
XM_005257110.1:c.1750G>A	XP_005257167.1:p.Glu584Lys
XM_006721737.2:c.637G>A	XP_006721800.2:p.Glu213Lys
XM_006721737.3:c.637G>A	XP_006721800.2:p.Glu213Lys
NM_000789.4:c.2299G>A MANE Select	NP_000780.1:p.Glu767Lys
NM_001178057.2:c.577G>A	NP_001171528.1:p.Glu193Lys
NM_152830.3:c.577G>A	NP_690043.1:p.Glu193Lys
NM_001382700.1:c.1732G>A	NP_001369629.1:p.Glu578Lys
NM_001382701.1:c.1447G>A	NP_001369630.1:p.Glu483Lys
NM_001382702.1:c.229G>A	NP_001369631.1:p.Glu77Lys
NR_168483.1:n.599G>A