Canonical Allele Identifier: CA400567059

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574234C>A (hg19) ; chr17:g.63496873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496873C>A , CM000679.2:g.63496873C>A	GRCh38
NC_000017.10:g.61574234C>A , CM000679.1:g.61574234C>A	GRCh37
NC_000017.9:g.58927966C>A	NCBI36
NG_011648.1:g.24801C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3579C>A MANE Select	ENSP00000290866.4:p.Ser1193Arg
ENST00000290863.10:c.1857C>A	ENSP00000290863.6:p.Ser619Arg
ENST00000290866.9:c.3579C>A	ENSP00000290866.4:p.Ser1193Arg
ENST00000413513.7:c.1734C>A	ENSP00000392247.3:p.Ser578Arg
ENST00000428043.5:c.3579C>A	ENSP00000397593.2:p.Ser1193Arg
ENST00000577418.5:n.589C>A
ENST00000577647.2:c.1857C>A	ENSP00000464149.1:p.Ser619Arg
ENST00000578839.5:c.*1334C>A	ENSP00000462110.2:n.*1334C>A
ENST00000579314.5:c.*1308C>A	ENSP00000462599.1:n.*1308C>A
ENST00000579409.1:c.266C>A
ENST00000582244.1:n.453C>A
NM_000789.3:c.3579C>A	NP_000780.1:p.Ser1193Arg
NM_001178057.1:c.1734C>A	NP_001171528.1:p.Ser578Arg
NM_152830.2:c.1857C>A	NP_690043.1:p.Ser619Arg
XM_005257110.1:c.3030C>A	XP_005257167.1:p.Ser1010Arg
XM_006721737.2:c.1917C>A	XP_006721800.2:p.Ser639Arg
XM_006721737.3:c.1917C>A	XP_006721800.2:p.Ser639Arg
NM_000789.4:c.3579C>A MANE Select	NP_000780.1:p.Ser1193Arg
NM_001178057.2:c.1734C>A	NP_001171528.1:p.Ser578Arg
NM_152830.3:c.1857C>A	NP_690043.1:p.Ser619Arg
NM_001382700.1:c.3012C>A	NP_001369629.1:p.Ser1004Arg
NM_001382701.1:c.2727C>A	NP_001369630.1:p.Ser909Arg
NM_001382702.1:c.1194C>A	NP_001369631.1:p.Ser398Arg
NR_168483.1:n.1957C>A