Canonical Allele Identifier: CA400558197

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566338A>T (hg19) ; chr17:g.63488977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488977A>T , CM000679.2:g.63488977A>T	GRCh38
NC_000017.10:g.61566338A>T , CM000679.1:g.61566338A>T	GRCh37
NC_000017.9:g.58920070A>T	NCBI36
NG_011648.1:g.16905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2486A>T MANE Select	ENSP00000290866.4:p.Tyr829Phe
ENST00000290863.10:c.764A>T	ENSP00000290863.6:p.Tyr255Phe
ENST00000290866.9:c.2486A>T	ENSP00000290866.4:p.Tyr829Phe
ENST00000413513.7:c.764A>T	ENSP00000392247.3:p.Tyr255Phe
ENST00000428043.5:c.2486A>T	ENSP00000397593.2:p.Tyr829Phe
ENST00000577647.2:c.764A>T	ENSP00000464149.1:p.Tyr255Phe
ENST00000578839.5:c.*519+186A>T	ENSP00000462110.2:n.*519+186A>T
ENST00000579204.1:c.745A>T	ENSP00000464629.1:n.745A>T
ENST00000579314.5:c.*215A>T	ENSP00000462599.1:n.*215A>T
ENST00000582005.5:c.*406A>T	ENSP00000462002.1:n.*406A>T
ENST00000582761.1:c.254A>T	ENSP00000462909.1:p.Tyr85Phe
ENST00000584865.5:n.432A>T
NM_000789.3:c.2486A>T	NP_000780.1:p.Tyr829Phe
NM_001178057.1:c.764A>T	NP_001171528.1:p.Tyr255Phe
NM_152830.2:c.764A>T	NP_690043.1:p.Tyr255Phe
XM_005257110.1:c.1937A>T	XP_005257167.1:p.Tyr646Phe
XM_006721737.2:c.824A>T	XP_006721800.2:p.Tyr275Phe
XM_006721737.3:c.824A>T	XP_006721800.2:p.Tyr275Phe
NM_000789.4:c.2486A>T MANE Select	NP_000780.1:p.Tyr829Phe
NM_001178057.2:c.764A>T	NP_001171528.1:p.Tyr255Phe
NM_152830.3:c.764A>T	NP_690043.1:p.Tyr255Phe
NM_001382700.1:c.1919A>T	NP_001369629.1:p.Tyr640Phe
NM_001382701.1:c.1634A>T	NP_001369630.1:p.Tyr545Phe
NM_001382702.1:c.379+186A>T	NP_001369631.1:n.379+186A>T
NR_168483.1:n.864A>T