Canonical Allele Identifier: CA400569491

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574678A>T (hg19) ; chr17:g.63497317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497317A>T , CM000679.2:g.63497317A>T	GRCh38
NC_000017.10:g.61574678A>T , CM000679.1:g.61574678A>T	GRCh37
NC_000017.9:g.58928410A>T	NCBI36
NG_011648.1:g.25245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3872A>T MANE Select	ENSP00000290866.4:p.His1291Leu
ENST00000290863.10:c.2150A>T	ENSP00000290863.6:p.His717Leu
ENST00000290866.9:c.3872A>T	ENSP00000290866.4:p.His1291Leu
ENST00000413513.7:c.2027A>T	ENSP00000392247.3:p.His676Leu
ENST00000428043.5:c.*294A>T	ENSP00000397593.2:n.*294A>T
ENST00000577647.2:c.1969+332A>T	ENSP00000464149.1:n.1969+332A>T
ENST00000578839.5:c.*1627A>T	ENSP00000462110.2:n.*1627A>T
ENST00000579314.5:c.*1601A>T	ENSP00000462599.1:n.*1601A>T
NM_000789.3:c.3872A>T	NP_000780.1:p.His1291Leu
NM_001178057.1:c.2027A>T	NP_001171528.1:p.His676Leu
NM_152830.2:c.2150A>T	NP_690043.1:p.His717Leu
XM_005257110.1:c.3323A>T	XP_005257167.1:p.His1108Leu
XM_006721737.2:c.2210A>T	XP_006721800.2:p.His737Leu
XM_006721737.3:c.2210A>T	XP_006721800.2:p.His737Leu
NM_000789.4:c.3872A>T MANE Select	NP_000780.1:p.His1291Leu
NM_001178057.2:c.2027A>T	NP_001171528.1:p.His676Leu
NM_152830.3:c.2150A>T	NP_690043.1:p.His717Leu
NM_001382700.1:c.3305A>T	NP_001369629.1:p.His1102Leu
NM_001382701.1:c.3020A>T	NP_001369630.1:p.His1007Leu
NM_001382702.1:c.1487A>T	NP_001369631.1:p.His496Leu
NR_168483.1:n.2250A>T