Canonical Allele Identifier: CA400549296

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559885G>A (hg19) ; chr17:g.63482524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482524G>A , CM000679.2:g.63482524G>A	GRCh38
NC_000017.10:g.61559885G>A , CM000679.1:g.61559885G>A	GRCh37
NC_000017.9:g.58913617G>A	NCBI36
NG_011648.1:g.10452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1177G>A MANE Select	ENSP00000290866.4:p.Gly393Ser
ENST00000290866.9:c.1177G>A	ENSP00000290866.4:p.Gly393Ser
ENST00000428043.5:c.1177G>A	ENSP00000397593.2:p.Gly393Ser
ENST00000582678.5:c.*576G>A	ENSP00000462995.1:n.*576G>A
ENST00000584529.5:n.1211G>A
NM_000789.3:c.1177G>A	NP_000780.1:p.Gly393Ser
XM_005257110.1:c.628G>A	XP_005257167.1:p.Gly210Ser
NM_000789.4:c.1177G>A MANE Select	NP_000780.1:p.Gly393Ser
NM_001382700.1:c.610G>A	NP_001369629.1:p.Gly204Ser
NM_001382701.1:c.325G>A	NP_001369630.1:p.Gly109Ser