Canonical Allele Identifier: CA400568298

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574503T>A (hg19) ; chr17:g.63497142T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497142T>A , CM000679.2:g.63497142T>A	GRCh38
NC_000017.10:g.61574503T>A , CM000679.1:g.61574503T>A	GRCh37
NC_000017.9:g.58928235T>A	NCBI36
NG_011648.1:g.25070T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3697T>A MANE Select	ENSP00000290866.4:p.Ser1233Thr
ENST00000290863.10:c.1975T>A	ENSP00000290863.6:p.Ser659Thr
ENST00000290866.9:c.3697T>A	ENSP00000290866.4:p.Ser1233Thr
ENST00000413513.7:c.1852T>A	ENSP00000392247.3:p.Ser618Thr
ENST00000428043.5:c.*119T>A	ENSP00000397593.2:n.*119T>A
ENST00000577418.5:n.707T>A
ENST00000577647.2:c.1969+157T>A	ENSP00000464149.1:n.1969+157T>A
ENST00000578839.5:c.*1452T>A	ENSP00000462110.2:n.*1452T>A
ENST00000579314.5:c.*1426T>A	ENSP00000462599.1:n.*1426T>A
ENST00000579409.1:c.535T>A
NM_000789.3:c.3697T>A	NP_000780.1:p.Ser1233Thr
NM_001178057.1:c.1852T>A	NP_001171528.1:p.Ser618Thr
NM_152830.2:c.1975T>A	NP_690043.1:p.Ser659Thr
XM_005257110.1:c.3148T>A	XP_005257167.1:p.Ser1050Thr
XM_006721737.2:c.2035T>A	XP_006721800.2:p.Ser679Thr
XM_006721737.3:c.2035T>A	XP_006721800.2:p.Ser679Thr
NM_000789.4:c.3697T>A MANE Select	NP_000780.1:p.Ser1233Thr
NM_001178057.2:c.1852T>A	NP_001171528.1:p.Ser618Thr
NM_152830.3:c.1975T>A	NP_690043.1:p.Ser659Thr
NM_001382700.1:c.3130T>A	NP_001369629.1:p.Ser1044Thr
NM_001382701.1:c.2845T>A	NP_001369630.1:p.Ser949Thr
NM_001382702.1:c.1312T>A	NP_001369631.1:p.Ser438Thr
NR_168483.1:n.2075T>A