Canonical Allele Identifier: CA400568639

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574559T>G (hg19) ; chr17:g.63497198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497198T>G , CM000679.2:g.63497198T>G	GRCh38
NC_000017.10:g.61574559T>G , CM000679.1:g.61574559T>G	GRCh37
NC_000017.9:g.58928291T>G	NCBI36
NG_011648.1:g.25126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3753T>G MANE Select	ENSP00000290866.4:p.Asp1251Glu
ENST00000290863.10:c.2031T>G	ENSP00000290863.6:p.Asp677Glu
ENST00000290866.9:c.3753T>G	ENSP00000290866.4:p.Asp1251Glu
ENST00000413513.7:c.1908T>G	ENSP00000392247.3:p.Asp636Glu
ENST00000428043.5:c.*175T>G	ENSP00000397593.2:n.*175T>G
ENST00000577647.2:c.1969+213T>G	ENSP00000464149.1:n.1969+213T>G
ENST00000578839.5:c.*1508T>G	ENSP00000462110.2:n.*1508T>G
ENST00000579314.5:c.*1482T>G	ENSP00000462599.1:n.*1482T>G
NM_000789.3:c.3753T>G	NP_000780.1:p.Asp1251Glu
NM_001178057.1:c.1908T>G	NP_001171528.1:p.Asp636Glu
NM_152830.2:c.2031T>G	NP_690043.1:p.Asp677Glu
XM_005257110.1:c.3204T>G	XP_005257167.1:p.Asp1068Glu
XM_006721737.2:c.2091T>G	XP_006721800.2:p.Asp697Glu
XM_006721737.3:c.2091T>G	XP_006721800.2:p.Asp697Glu
NM_000789.4:c.3753T>G MANE Select	NP_000780.1:p.Asp1251Glu
NM_001178057.2:c.1908T>G	NP_001171528.1:p.Asp636Glu
NM_152830.3:c.2031T>G	NP_690043.1:p.Asp677Glu
NM_001382700.1:c.3186T>G	NP_001369629.1:p.Asp1062Glu
NM_001382701.1:c.2901T>G	NP_001369630.1:p.Asp967Glu
NM_001382702.1:c.1368T>G	NP_001369631.1:p.Asp456Glu
NR_168483.1:n.2131T>G