Canonical Allele Identifier: CA400567755

Gene: ACE

Linked Data

• dbSNP Id: rs2030784350
• MyVariant Identifiers: chr17:g.61574323A>T (hg19) ; chr17:g.63496962A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496962A>T , CM000679.2:g.63496962A>T	GRCh38
NC_000017.10:g.61574323A>T , CM000679.1:g.61574323A>T	GRCh37
NC_000017.9:g.58928055A>T	NCBI36
NG_011648.1:g.24890A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3668A>T MANE Select	ENSP00000290866.4:p.Gln1223Leu
ENST00000290863.10:c.1946A>T	ENSP00000290863.6:p.Gln649Leu
ENST00000290866.9:c.3668A>T	ENSP00000290866.4:p.Gln1223Leu
ENST00000413513.7:c.1823A>T	ENSP00000392247.3:p.Gln608Leu
ENST00000428043.5:c.3668A>T	ENSP00000397593.2:p.Gln1223Leu
ENST00000577418.5:n.678A>T
ENST00000577647.2:c.1946A>T	ENSP00000464149.1:p.Gln649Leu
ENST00000578839.5:c.*1423A>T	ENSP00000462110.2:n.*1423A>T
ENST00000579314.5:c.*1397A>T	ENSP00000462599.1:n.*1397A>T
ENST00000579409.1:c.355A>T
ENST00000582244.1:n.542A>T
NM_000789.3:c.3668A>T	NP_000780.1:p.Gln1223Leu
NM_001178057.1:c.1823A>T	NP_001171528.1:p.Gln608Leu
NM_152830.2:c.1946A>T	NP_690043.1:p.Gln649Leu
XM_005257110.1:c.3119A>T	XP_005257167.1:p.Gln1040Leu
XM_006721737.2:c.2006A>T	XP_006721800.2:p.Gln669Leu
XM_006721737.3:c.2006A>T	XP_006721800.2:p.Gln669Leu
NM_000789.4:c.3668A>T MANE Select	NP_000780.1:p.Gln1223Leu
NM_001178057.2:c.1823A>T	NP_001171528.1:p.Gln608Leu
NM_152830.3:c.1946A>T	NP_690043.1:p.Gln649Leu
NM_001382700.1:c.3101A>T	NP_001369629.1:p.Gln1034Leu
NM_001382701.1:c.2816A>T	NP_001369630.1:p.Gln939Leu
NM_001382702.1:c.1283A>T	NP_001369631.1:p.Gln428Leu
NR_168483.1:n.2046A>T