Canonical Allele Identifier: CA501342445

Gene: ACE

Linked Data

• gnomAD v4: 17-63497306-C-T
• MyVariant Identifiers: chr17:g.61574667C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497306C>T , CM000679.2:g.63497306C>T	GRCh38
NC_000017.10:g.61574667C>T , CM000679.1:g.61574667C>T	GRCh37
NC_000017.9:g.58928399C>T	NCBI36
NG_011648.1:g.25234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3861C>T MANE Select	ENSP00000290866.4:p.Ser1287=
ENST00000290863.10:c.2139C>T	ENSP00000290863.6:p.Ser713=
ENST00000290866.9:c.3861C>T	ENSP00000290866.4:p.Ser1287=
ENST00000413513.7:c.2016C>T	ENSP00000392247.3:p.Ser672=
ENST00000428043.5:c.*283C>T	ENSP00000397593.2:n.*283C>T
ENST00000577647.2:c.1969+321C>T	ENSP00000464149.1:n.1969+321C>T
ENST00000578839.5:c.*1616C>T	ENSP00000462110.2:n.*1616C>T
ENST00000579314.5:c.*1590C>T	ENSP00000462599.1:n.*1590C>T
NM_000789.3:c.3861C>T	NP_000780.1:p.Ser1287=
NM_001178057.1:c.2016C>T	NP_001171528.1:p.Ser672=
NM_152830.2:c.2139C>T	NP_690043.1:p.Ser713=
XM_005257110.1:c.3312C>T	XP_005257167.1:p.Ser1104=
XM_006721737.2:c.2199C>T	XP_006721800.2:p.Ser733=
XM_006721737.3:c.2199C>T	XP_006721800.2:p.Ser733=
NM_000789.4:c.3861C>T MANE Select	NP_000780.1:p.Ser1287=
NM_001178057.2:c.2016C>T	NP_001171528.1:p.Ser672=
NM_152830.3:c.2139C>T	NP_690043.1:p.Ser713=
NM_001382700.1:c.3294C>T	NP_001369629.1:p.Ser1098=
NM_001382701.1:c.3009C>T	NP_001369630.1:p.Ser1003=
NM_001382702.1:c.1476C>T	NP_001369631.1:p.Ser492=
NR_168483.1:n.2239C>T