Canonical Allele Identifier: CA400556775

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564387T>G (hg19) ; chr17:g.63487026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487026T>G , CM000679.2:g.63487026T>G	GRCh38
NC_000017.10:g.61564387T>G , CM000679.1:g.61564387T>G	GRCh37
NC_000017.9:g.58918119T>G	NCBI36
NG_011648.1:g.14954T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2258T>G MANE Select	ENSP00000290866.4:p.Val753Gly
ENST00000290863.10:c.536T>G	ENSP00000290863.6:p.Val179Gly
ENST00000290866.9:c.2258T>G	ENSP00000290866.4:p.Val753Gly
ENST00000413513.7:c.536T>G	ENSP00000392247.3:p.Val179Gly
ENST00000428043.5:c.2258T>G	ENSP00000397593.2:p.Val753Gly
ENST00000577647.2:c.536T>G	ENSP00000464149.1:p.Val179Gly
ENST00000578839.5:c.*328T>G	ENSP00000462110.2:n.*328T>G
ENST00000579204.1:c.439T>G	ENSP00000464629.1:n.439T>G
ENST00000579314.5:c.536T>G	ENSP00000462599.1:p.Val179Gly
ENST00000579726.5:c.820T>G
ENST00000582005.5:c.*178T>G	ENSP00000462002.1:n.*178T>G
ENST00000582761.1:c.26T>G	ENSP00000462909.1:p.Val9Gly
ENST00000584865.5:n.204T>G
NM_000789.3:c.2258T>G	NP_000780.1:p.Val753Gly
NM_001178057.1:c.536T>G	NP_001171528.1:p.Val179Gly
NM_152830.2:c.536T>G	NP_690043.1:p.Val179Gly
XM_005257110.1:c.1709T>G	XP_005257167.1:p.Val570Gly
XM_006721737.2:c.596T>G	XP_006721800.2:p.Val199Gly
XM_006721737.3:c.596T>G	XP_006721800.2:p.Val199Gly
NM_000789.4:c.2258T>G MANE Select	NP_000780.1:p.Val753Gly
NM_001178057.2:c.536T>G	NP_001171528.1:p.Val179Gly
NM_152830.3:c.536T>G	NP_690043.1:p.Val179Gly
NM_001382700.1:c.1691T>G	NP_001369629.1:p.Val564Gly
NM_001382701.1:c.1406T>G	NP_001369630.1:p.Val469Gly
NM_001382702.1:c.188T>G	NP_001369631.1:p.Val63Gly
NR_168483.1:n.558T>G