Canonical Allele Identifier: CA400556816

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564398T>G (hg19) ; chr17:g.63487037T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487037T>G , CM000679.2:g.63487037T>G	GRCh38
NC_000017.10:g.61564398T>G , CM000679.1:g.61564398T>G	GRCh37
NC_000017.9:g.58918130T>G	NCBI36
NG_011648.1:g.14965T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2269T>G MANE Select	ENSP00000290866.4:p.Cys757Gly
ENST00000290863.10:c.547T>G	ENSP00000290863.6:p.Cys183Gly
ENST00000290866.9:c.2269T>G	ENSP00000290866.4:p.Cys757Gly
ENST00000413513.7:c.547T>G	ENSP00000392247.3:p.Cys183Gly
ENST00000428043.5:c.2269T>G	ENSP00000397593.2:p.Cys757Gly
ENST00000577647.2:c.547T>G	ENSP00000464149.1:p.Cys183Gly
ENST00000578839.5:c.*339T>G	ENSP00000462110.2:n.*339T>G
ENST00000579204.1:c.450T>G	ENSP00000464629.1:n.450T>G
ENST00000579314.5:c.547T>G	ENSP00000462599.1:p.Cys183Gly
ENST00000579726.5:c.831T>G
ENST00000582005.5:c.*189T>G	ENSP00000462002.1:n.*189T>G
ENST00000582761.1:c.37T>G	ENSP00000462909.1:p.Cys13Gly
ENST00000584865.5:n.215T>G
NM_000789.3:c.2269T>G	NP_000780.1:p.Cys757Gly
NM_001178057.1:c.547T>G	NP_001171528.1:p.Cys183Gly
NM_152830.2:c.547T>G	NP_690043.1:p.Cys183Gly
XM_005257110.1:c.1720T>G	XP_005257167.1:p.Cys574Gly
XM_006721737.2:c.607T>G	XP_006721800.2:p.Cys203Gly
XM_006721737.3:c.607T>G	XP_006721800.2:p.Cys203Gly
NM_000789.4:c.2269T>G MANE Select	NP_000780.1:p.Cys757Gly
NM_001178057.2:c.547T>G	NP_001171528.1:p.Cys183Gly
NM_152830.3:c.547T>G	NP_690043.1:p.Cys183Gly
NM_001382700.1:c.1702T>G	NP_001369629.1:p.Cys568Gly
NM_001382701.1:c.1417T>G	NP_001369630.1:p.Cys473Gly
NM_001382702.1:c.199T>G	NP_001369631.1:p.Cys67Gly
NR_168483.1:n.569T>G