Canonical Allele Identifier: CA8700646

Gene: ACE

Linked Data

• dbSNP Id: rs757286547
• ExAC: 17:61574526 C / T
• gnomAD v2: 17-61574526-C-T
• gnomAD v3: 17-63497165-C-T
• gnomAD v4: 17-63497165-C-T
• MyVariant Identifiers: chr17:g.61574526C>T (hg19) ; chr17:g.63497165C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497165C>T , CM000679.2:g.63497165C>T	GRCh38
NC_000017.10:g.61574526C>T , CM000679.1:g.61574526C>T	GRCh37
NC_000017.9:g.58928258C>T	NCBI36
NG_011648.1:g.25093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3720C>T MANE Select	ENSP00000290866.4:p.Ser1240=
ENST00000290863.10:c.1998C>T	ENSP00000290863.6:p.Ser666=
ENST00000290866.9:c.3720C>T	ENSP00000290866.4:p.Ser1240=
ENST00000413513.7:c.1875C>T	ENSP00000392247.3:p.Ser625=
ENST00000428043.5:c.*142C>T	ENSP00000397593.2:n.*142C>T
ENST00000577647.2:c.1969+180C>T	ENSP00000464149.1:n.1969+180C>T
ENST00000578839.5:c.*1475C>T	ENSP00000462110.2:n.*1475C>T
ENST00000579314.5:c.*1449C>T	ENSP00000462599.1:n.*1449C>T
NM_000789.3:c.3720C>T	NP_000780.1:p.Ser1240=
NM_001178057.1:c.1875C>T	NP_001171528.1:p.Ser625=
NM_152830.2:c.1998C>T	NP_690043.1:p.Ser666=
XM_005257110.1:c.3171C>T	XP_005257167.1:p.Ser1057=
XM_006721737.2:c.2058C>T	XP_006721800.2:p.Ser686=
XM_006721737.3:c.2058C>T	XP_006721800.2:p.Ser686=
NM_000789.4:c.3720C>T MANE Select	NP_000780.1:p.Ser1240=
NM_001178057.2:c.1875C>T	NP_001171528.1:p.Ser625=
NM_152830.3:c.1998C>T	NP_690043.1:p.Ser666=
NM_001382700.1:c.3153C>T	NP_001369629.1:p.Ser1051=
NM_001382701.1:c.2868C>T	NP_001369630.1:p.Ser956=
NM_001382702.1:c.1335C>T	NP_001369631.1:p.Ser445=
NR_168483.1:n.2098C>T