Canonical Allele Identifier: CA400556808

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564396T>G (hg19) ; chr17:g.63487035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487035T>G , CM000679.2:g.63487035T>G	GRCh38
NC_000017.10:g.61564396T>G , CM000679.1:g.61564396T>G	GRCh37
NC_000017.9:g.58918128T>G	NCBI36
NG_011648.1:g.14963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2267T>G MANE Select	ENSP00000290866.4:p.Val756Gly
ENST00000290863.10:c.545T>G	ENSP00000290863.6:p.Val182Gly
ENST00000290866.9:c.2267T>G	ENSP00000290866.4:p.Val756Gly
ENST00000413513.7:c.545T>G	ENSP00000392247.3:p.Val182Gly
ENST00000428043.5:c.2267T>G	ENSP00000397593.2:p.Val756Gly
ENST00000577647.2:c.545T>G	ENSP00000464149.1:p.Val182Gly
ENST00000578839.5:c.*337T>G	ENSP00000462110.2:n.*337T>G
ENST00000579204.1:c.448T>G	ENSP00000464629.1:n.448T>G
ENST00000579314.5:c.545T>G	ENSP00000462599.1:p.Val182Gly
ENST00000579726.5:c.829T>G
ENST00000582005.5:c.*187T>G	ENSP00000462002.1:n.*187T>G
ENST00000582761.1:c.35T>G	ENSP00000462909.1:p.Val12Gly
ENST00000584865.5:n.213T>G
NM_000789.3:c.2267T>G	NP_000780.1:p.Val756Gly
NM_001178057.1:c.545T>G	NP_001171528.1:p.Val182Gly
NM_152830.2:c.545T>G	NP_690043.1:p.Val182Gly
XM_005257110.1:c.1718T>G	XP_005257167.1:p.Val573Gly
XM_006721737.2:c.605T>G	XP_006721800.2:p.Val202Gly
XM_006721737.3:c.605T>G	XP_006721800.2:p.Val202Gly
NM_000789.4:c.2267T>G MANE Select	NP_000780.1:p.Val756Gly
NM_001178057.2:c.545T>G	NP_001171528.1:p.Val182Gly
NM_152830.3:c.545T>G	NP_690043.1:p.Val182Gly
NM_001382700.1:c.1700T>G	NP_001369629.1:p.Val567Gly
NM_001382701.1:c.1415T>G	NP_001369630.1:p.Val472Gly
NM_001382702.1:c.197T>G	NP_001369631.1:p.Val66Gly
NR_168483.1:n.567T>G