Canonical Allele Identifier: CA400568419

Gene: ACE

Linked Data

• gnomAD v4: 17-63497166-G-T
• MyVariant Identifiers: chr17:g.61574527G>T (hg19) ; chr17:g.63497166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497166G>T , CM000679.2:g.63497166G>T	GRCh38
NC_000017.10:g.61574527G>T , CM000679.1:g.61574527G>T	GRCh37
NC_000017.9:g.58928259G>T	NCBI36
NG_011648.1:g.25094G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3721G>T MANE Select	ENSP00000290866.4:p.Gly1241Cys
ENST00000290863.10:c.1999G>T	ENSP00000290863.6:p.Gly667Cys
ENST00000290866.9:c.3721G>T	ENSP00000290866.4:p.Gly1241Cys
ENST00000413513.7:c.1876G>T	ENSP00000392247.3:p.Gly626Cys
ENST00000428043.5:c.*143G>T	ENSP00000397593.2:n.*143G>T
ENST00000577647.2:c.1969+181G>T	ENSP00000464149.1:n.1969+181G>T
ENST00000578839.5:c.*1476G>T	ENSP00000462110.2:n.*1476G>T
ENST00000579314.5:c.*1450G>T	ENSP00000462599.1:n.*1450G>T
NM_000789.3:c.3721G>T	NP_000780.1:p.Gly1241Cys
NM_001178057.1:c.1876G>T	NP_001171528.1:p.Gly626Cys
NM_152830.2:c.1999G>T	NP_690043.1:p.Gly667Cys
XM_005257110.1:c.3172G>T	XP_005257167.1:p.Gly1058Cys
XM_006721737.2:c.2059G>T	XP_006721800.2:p.Gly687Cys
XM_006721737.3:c.2059G>T	XP_006721800.2:p.Gly687Cys
NM_000789.4:c.3721G>T MANE Select	NP_000780.1:p.Gly1241Cys
NM_001178057.2:c.1876G>T	NP_001171528.1:p.Gly626Cys
NM_152830.3:c.1999G>T	NP_690043.1:p.Gly667Cys
NM_001382700.1:c.3154G>T	NP_001369629.1:p.Gly1052Cys
NM_001382701.1:c.2869G>T	NP_001369630.1:p.Gly957Cys
NM_001382702.1:c.1336G>T	NP_001369631.1:p.Gly446Cys
NR_168483.1:n.2099G>T