Canonical Allele Identifier: CA400557997

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2405A>T MANE Select	ENSP00000290866.4:p.Tyr802Phe
ENST00000290863.10:c.683A>T	ENSP00000290863.6:p.Tyr228Phe
ENST00000290866.9:c.2405A>T	ENSP00000290866.4:p.Tyr802Phe
ENST00000413513.7:c.683A>T	ENSP00000392247.3:p.Tyr228Phe
ENST00000428043.5:c.2405A>T	ENSP00000397593.2:p.Tyr802Phe
ENST00000577647.2:c.683A>T	ENSP00000464149.1:p.Tyr228Phe
ENST00000578839.5:c.*475A>T	ENSP00000462110.2:n.*475A>T
ENST00000579204.1:c.664A>T	ENSP00000464629.1:n.664A>T
ENST00000579314.5:c.*134A>T	ENSP00000462599.1:n.*134A>T
ENST00000582005.5:c.*325A>T	ENSP00000462002.1:n.*325A>T
ENST00000582761.1:c.173A>T	ENSP00000462909.1:p.Tyr58Phe
ENST00000584865.5:n.351A>T
NM_000789.3:c.2405A>T	NP_000780.1:p.Tyr802Phe
NM_001178057.1:c.683A>T	NP_001171528.1:p.Tyr228Phe
NM_152830.2:c.683A>T	NP_690043.1:p.Tyr228Phe
XM_005257110.1:c.1856A>T	XP_005257167.1:p.Tyr619Phe
XM_006721737.2:c.743A>T	XP_006721800.2:p.Tyr248Phe
XM_006721737.3:c.743A>T	XP_006721800.2:p.Tyr248Phe
NM_000789.4:c.2405A>T MANE Select	NP_000780.1:p.Tyr802Phe
NM_001178057.2:c.683A>T	NP_001171528.1:p.Tyr228Phe
NM_152830.3:c.683A>T	NP_690043.1:p.Tyr228Phe
NM_001382700.1:c.1838A>T	NP_001369629.1:p.Tyr613Phe
NM_001382701.1:c.1553A>T	NP_001369630.1:p.Tyr518Phe
NM_001382702.1:c.335A>T	NP_001369631.1:p.Tyr112Phe
NR_168483.1:n.783A>T