Canonical Allele Identifier: CA400568539

Gene: ACE

Linked Data

• dbSNP Id: rs2030812434
• gnomAD v4: 17-63497185-G-T
• MyVariant Identifiers: chr17:g.61574546G>T (hg19) ; chr17:g.63497185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497185G>T , CM000679.2:g.63497185G>T	GRCh38
NC_000017.10:g.61574546G>T , CM000679.1:g.61574546G>T	GRCh37
NC_000017.9:g.58928278G>T	NCBI36
NG_011648.1:g.25113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3740G>T MANE Select	ENSP00000290866.4:p.Gly1247Val
ENST00000290863.10:c.2018G>T	ENSP00000290863.6:p.Gly673Val
ENST00000290866.9:c.3740G>T	ENSP00000290866.4:p.Gly1247Val
ENST00000413513.7:c.1895G>T	ENSP00000392247.3:p.Gly632Val
ENST00000428043.5:c.*162G>T	ENSP00000397593.2:n.*162G>T
ENST00000577647.2:c.1969+200G>T	ENSP00000464149.1:n.1969+200G>T
ENST00000578839.5:c.*1495G>T	ENSP00000462110.2:n.*1495G>T
ENST00000579314.5:c.*1469G>T	ENSP00000462599.1:n.*1469G>T
NM_000789.3:c.3740G>T	NP_000780.1:p.Gly1247Val
NM_001178057.1:c.1895G>T	NP_001171528.1:p.Gly632Val
NM_152830.2:c.2018G>T	NP_690043.1:p.Gly673Val
XM_005257110.1:c.3191G>T	XP_005257167.1:p.Gly1064Val
XM_006721737.2:c.2078G>T	XP_006721800.2:p.Gly693Val
XM_006721737.3:c.2078G>T	XP_006721800.2:p.Gly693Val
NM_000789.4:c.3740G>T MANE Select	NP_000780.1:p.Gly1247Val
NM_001178057.2:c.1895G>T	NP_001171528.1:p.Gly632Val
NM_152830.3:c.2018G>T	NP_690043.1:p.Gly673Val
NM_001382700.1:c.3173G>T	NP_001369629.1:p.Gly1058Val
NM_001382701.1:c.2888G>T	NP_001369630.1:p.Gly963Val
NM_001382702.1:c.1355G>T	NP_001369631.1:p.Gly452Val
NR_168483.1:n.2118G>T