Canonical Allele Identifier: CA400568739

Gene: ACE

Linked Data

• dbSNP Id: rs766377685
• gnomAD v4: 17-63497212-G-T
• MyVariant Identifiers: chr17:g.61574573G>T (hg19) ; chr17:g.63497212G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497212G>T , CM000679.2:g.63497212G>T	GRCh38
NC_000017.10:g.61574573G>T , CM000679.1:g.61574573G>T	GRCh37
NC_000017.9:g.58928305G>T	NCBI36
NG_011648.1:g.25140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3767G>T MANE Select	ENSP00000290866.4:p.Arg1256Leu
ENST00000290863.10:c.2045G>T	ENSP00000290863.6:p.Arg682Leu
ENST00000290866.9:c.3767G>T	ENSP00000290866.4:p.Arg1256Leu
ENST00000413513.7:c.1922G>T	ENSP00000392247.3:p.Arg641Leu
ENST00000428043.5:c.*189G>T	ENSP00000397593.2:n.*189G>T
ENST00000577647.2:c.1969+227G>T	ENSP00000464149.1:n.1969+227G>T
ENST00000578839.5:c.*1522G>T	ENSP00000462110.2:n.*1522G>T
ENST00000579314.5:c.*1496G>T	ENSP00000462599.1:n.*1496G>T
NM_000789.3:c.3767G>T	NP_000780.1:p.Arg1256Leu
NM_001178057.1:c.1922G>T	NP_001171528.1:p.Arg641Leu
NM_152830.2:c.2045G>T	NP_690043.1:p.Arg682Leu
XM_005257110.1:c.3218G>T	XP_005257167.1:p.Arg1073Leu
XM_006721737.2:c.2105G>T	XP_006721800.2:p.Arg702Leu
XM_006721737.3:c.2105G>T	XP_006721800.2:p.Arg702Leu
NM_000789.4:c.3767G>T MANE Select	NP_000780.1:p.Arg1256Leu
NM_001178057.2:c.1922G>T	NP_001171528.1:p.Arg641Leu
NM_152830.3:c.2045G>T	NP_690043.1:p.Arg682Leu
NM_001382700.1:c.3200G>T	NP_001369629.1:p.Arg1067Leu
NM_001382701.1:c.2915G>T	NP_001369630.1:p.Arg972Leu
NM_001382702.1:c.1382G>T	NP_001369631.1:p.Arg461Leu
NR_168483.1:n.2145G>T