Canonical Allele Identifier: CA400567266

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574254A>T (hg19) ; chr17:g.63496893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496893A>T , CM000679.2:g.63496893A>T	GRCh38
NC_000017.10:g.61574254A>T , CM000679.1:g.61574254A>T	GRCh37
NC_000017.9:g.58927986A>T	NCBI36
NG_011648.1:g.24821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3599A>T MANE Select	ENSP00000290866.4:p.Tyr1200Phe
ENST00000290863.10:c.1877A>T	ENSP00000290863.6:p.Tyr626Phe
ENST00000290866.9:c.3599A>T	ENSP00000290866.4:p.Tyr1200Phe
ENST00000413513.7:c.1754A>T	ENSP00000392247.3:p.Tyr585Phe
ENST00000428043.5:c.3599A>T	ENSP00000397593.2:p.Tyr1200Phe
ENST00000577418.5:n.609A>T
ENST00000577647.2:c.1877A>T	ENSP00000464149.1:p.Tyr626Phe
ENST00000578839.5:c.*1354A>T	ENSP00000462110.2:n.*1354A>T
ENST00000579314.5:c.*1328A>T	ENSP00000462599.1:n.*1328A>T
ENST00000579409.1:c.286A>T
ENST00000582244.1:n.473A>T
NM_000789.3:c.3599A>T	NP_000780.1:p.Tyr1200Phe
NM_001178057.1:c.1754A>T	NP_001171528.1:p.Tyr585Phe
NM_152830.2:c.1877A>T	NP_690043.1:p.Tyr626Phe
XM_005257110.1:c.3050A>T	XP_005257167.1:p.Tyr1017Phe
XM_006721737.2:c.1937A>T	XP_006721800.2:p.Tyr646Phe
XM_006721737.3:c.1937A>T	XP_006721800.2:p.Tyr646Phe
NM_000789.4:c.3599A>T MANE Select	NP_000780.1:p.Tyr1200Phe
NM_001178057.2:c.1754A>T	NP_001171528.1:p.Tyr585Phe
NM_152830.3:c.1877A>T	NP_690043.1:p.Tyr626Phe
NM_001382700.1:c.3032A>T	NP_001369629.1:p.Tyr1011Phe
NM_001382701.1:c.2747A>T	NP_001369630.1:p.Tyr916Phe
NM_001382702.1:c.1214A>T	NP_001369631.1:p.Tyr405Phe
NR_168483.1:n.1977A>T