Canonical Allele Identifier: CA8700143

Gene: ACE

Linked Data

• dbSNP Id: rs767425642
• ExAC: 17:61566371 G / A
• gnomAD v2: 17-61566371-G-A
• gnomAD v4: 17-63489010-G-A
• MyVariant Identifiers: chr17:g.61566371G>A (hg19) ; chr17:g.63489010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489010G>A , CM000679.2:g.63489010G>A	GRCh38
NC_000017.10:g.61566371G>A , CM000679.1:g.61566371G>A	GRCh37
NC_000017.9:g.58920103G>A	NCBI36
NG_011648.1:g.16938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2519G>A MANE Select	ENSP00000290866.4:p.Arg840Gln
ENST00000290863.10:c.797G>A	ENSP00000290863.6:p.Arg266Gln
ENST00000290866.9:c.2519G>A	ENSP00000290866.4:p.Arg840Gln
ENST00000413513.7:c.797G>A	ENSP00000392247.3:p.Arg266Gln
ENST00000428043.5:c.2519G>A	ENSP00000397593.2:p.Arg840Gln
ENST00000577647.2:c.797G>A	ENSP00000464149.1:p.Arg266Gln
ENST00000578839.5:c.*519+219G>A	ENSP00000462110.2:n.*519+219G>A
ENST00000579204.1:c.778G>A	ENSP00000464629.1:n.778G>A
ENST00000579314.5:c.*248G>A	ENSP00000462599.1:n.*248G>A
ENST00000582005.5:c.*439G>A	ENSP00000462002.1:n.*439G>A
ENST00000582761.1:c.287G>A	ENSP00000462909.1:p.Arg96Gln
ENST00000584865.5:n.465G>A
NM_000789.3:c.2519G>A	NP_000780.1:p.Arg840Gln
NM_001178057.1:c.797G>A	NP_001171528.1:p.Arg266Gln
NM_152830.2:c.797G>A	NP_690043.1:p.Arg266Gln
XM_005257110.1:c.1970G>A	XP_005257167.1:p.Arg657Gln
XM_006721737.2:c.857G>A	XP_006721800.2:p.Arg286Gln
XM_006721737.3:c.857G>A	XP_006721800.2:p.Arg286Gln
NM_000789.4:c.2519G>A MANE Select	NP_000780.1:p.Arg840Gln
NM_001178057.2:c.797G>A	NP_001171528.1:p.Arg266Gln
NM_152830.3:c.797G>A	NP_690043.1:p.Arg266Gln
NM_001382700.1:c.1952G>A	NP_001369629.1:p.Arg651Gln
NM_001382701.1:c.1667G>A	NP_001369630.1:p.Arg556Gln
NM_001382702.1:c.379+219G>A	NP_001369631.1:n.379+219G>A
NR_168483.1:n.897G>A