Canonical Allele Identifier: CA501342352

Gene: ACE

Linked Data

• gnomAD v4: 17-63497231-G-T
• MyVariant Identifiers: chr17:g.61574592G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497231G>T , CM000679.2:g.63497231G>T	GRCh38
NC_000017.10:g.61574592G>T , CM000679.1:g.61574592G>T	GRCh37
NC_000017.9:g.58928324G>T	NCBI36
NG_011648.1:g.25159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3786G>T MANE Select	ENSP00000290866.4:p.Leu1262=
ENST00000290863.10:c.2064G>T	ENSP00000290863.6:p.Leu688=
ENST00000290866.9:c.3786G>T	ENSP00000290866.4:p.Leu1262=
ENST00000413513.7:c.1941G>T	ENSP00000392247.3:p.Leu647=
ENST00000428043.5:c.*208G>T	ENSP00000397593.2:n.*208G>T
ENST00000577647.2:c.1969+246G>T	ENSP00000464149.1:n.1969+246G>T
ENST00000578839.5:c.*1541G>T	ENSP00000462110.2:n.*1541G>T
ENST00000579314.5:c.*1515G>T	ENSP00000462599.1:n.*1515G>T
NM_000789.3:c.3786G>T	NP_000780.1:p.Leu1262=
NM_001178057.1:c.1941G>T	NP_001171528.1:p.Leu647=
NM_152830.2:c.2064G>T	NP_690043.1:p.Leu688=
XM_005257110.1:c.3237G>T	XP_005257167.1:p.Leu1079=
XM_006721737.2:c.2124G>T	XP_006721800.2:p.Leu708=
XM_006721737.3:c.2124G>T	XP_006721800.2:p.Leu708=
NM_000789.4:c.3786G>T MANE Select	NP_000780.1:p.Leu1262=
NM_001178057.2:c.1941G>T	NP_001171528.1:p.Leu647=
NM_152830.3:c.2064G>T	NP_690043.1:p.Leu688=
NM_001382700.1:c.3219G>T	NP_001369629.1:p.Leu1073=
NM_001382701.1:c.2934G>T	NP_001369630.1:p.Leu978=
NM_001382702.1:c.1401G>T	NP_001369631.1:p.Leu467=
NR_168483.1:n.2164G>T