Canonical Allele Identifier: CA400567650

Gene: ACE

Linked Data

• dbSNP Id: rs2030782285
• MyVariant Identifiers: chr17:g.61574308A>G (hg19) ; chr17:g.63496947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496947A>G , CM000679.2:g.63496947A>G	GRCh38
NC_000017.10:g.61574308A>G , CM000679.1:g.61574308A>G	GRCh37
NC_000017.9:g.58928040A>G	NCBI36
NG_011648.1:g.24875A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3653A>G MANE Select	ENSP00000290866.4:p.Lys1218Arg
ENST00000290863.10:c.1931A>G	ENSP00000290863.6:p.Lys644Arg
ENST00000290866.9:c.3653A>G	ENSP00000290866.4:p.Lys1218Arg
ENST00000413513.7:c.1808A>G	ENSP00000392247.3:p.Lys603Arg
ENST00000428043.5:c.3653A>G	ENSP00000397593.2:p.Lys1218Arg
ENST00000577418.5:n.663A>G
ENST00000577647.2:c.1931A>G	ENSP00000464149.1:p.Lys644Arg
ENST00000578839.5:c.*1408A>G	ENSP00000462110.2:n.*1408A>G
ENST00000579314.5:c.*1382A>G	ENSP00000462599.1:n.*1382A>G
ENST00000579409.1:c.340A>G
ENST00000582244.1:n.527A>G
NM_000789.3:c.3653A>G	NP_000780.1:p.Lys1218Arg
NM_001178057.1:c.1808A>G	NP_001171528.1:p.Lys603Arg
NM_152830.2:c.1931A>G	NP_690043.1:p.Lys644Arg
XM_005257110.1:c.3104A>G	XP_005257167.1:p.Lys1035Arg
XM_006721737.2:c.1991A>G	XP_006721800.2:p.Lys664Arg
XM_006721737.3:c.1991A>G	XP_006721800.2:p.Lys664Arg
NM_000789.4:c.3653A>G MANE Select	NP_000780.1:p.Lys1218Arg
NM_001178057.2:c.1808A>G	NP_001171528.1:p.Lys603Arg
NM_152830.3:c.1931A>G	NP_690043.1:p.Lys644Arg
NM_001382700.1:c.3086A>G	NP_001369629.1:p.Lys1029Arg
NM_001382701.1:c.2801A>G	NP_001369630.1:p.Lys934Arg
NM_001382702.1:c.1268A>G	NP_001369631.1:p.Lys423Arg
NR_168483.1:n.2031A>G