Canonical Allele Identifier: CA400557998

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566108A>G (hg19) ; chr17:g.63488747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488747A>G , CM000679.2:g.63488747A>G	GRCh38
NC_000017.10:g.61566108A>G , CM000679.1:g.61566108A>G	GRCh37
NC_000017.9:g.58919840A>G	NCBI36
NG_011648.1:g.16675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2405A>G MANE Select	ENSP00000290866.4:p.Tyr802Cys
ENST00000290863.10:c.683A>G	ENSP00000290863.6:p.Tyr228Cys
ENST00000290866.9:c.2405A>G	ENSP00000290866.4:p.Tyr802Cys
ENST00000413513.7:c.683A>G	ENSP00000392247.3:p.Tyr228Cys
ENST00000428043.5:c.2405A>G	ENSP00000397593.2:p.Tyr802Cys
ENST00000577647.2:c.683A>G	ENSP00000464149.1:p.Tyr228Cys
ENST00000578839.5:c.*475A>G	ENSP00000462110.2:n.*475A>G
ENST00000579204.1:c.664A>G	ENSP00000464629.1:n.664A>G
ENST00000579314.5:c.*134A>G	ENSP00000462599.1:n.*134A>G
ENST00000582005.5:c.*325A>G	ENSP00000462002.1:n.*325A>G
ENST00000582761.1:c.173A>G	ENSP00000462909.1:p.Tyr58Cys
ENST00000584865.5:n.351A>G
NM_000789.3:c.2405A>G	NP_000780.1:p.Tyr802Cys
NM_001178057.1:c.683A>G	NP_001171528.1:p.Tyr228Cys
NM_152830.2:c.683A>G	NP_690043.1:p.Tyr228Cys
XM_005257110.1:c.1856A>G	XP_005257167.1:p.Tyr619Cys
XM_006721737.2:c.743A>G	XP_006721800.2:p.Tyr248Cys
XM_006721737.3:c.743A>G	XP_006721800.2:p.Tyr248Cys
NM_000789.4:c.2405A>G MANE Select	NP_000780.1:p.Tyr802Cys
NM_001178057.2:c.683A>G	NP_001171528.1:p.Tyr228Cys
NM_152830.3:c.683A>G	NP_690043.1:p.Tyr228Cys
NM_001382700.1:c.1838A>G	NP_001369629.1:p.Tyr613Cys
NM_001382701.1:c.1553A>G	NP_001369630.1:p.Tyr518Cys
NM_001382702.1:c.335A>G	NP_001369631.1:p.Tyr112Cys
NR_168483.1:n.783A>G