Canonical Allele Identifier: CA400569059

Gene: ACE

Linked Data

• ClinVar Variation Id: 3136357
• ClinVar RCV Id: RCV004432222
• MyVariant Identifiers: chr17:g.61574629G>A (hg19) ; chr17:g.63497268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497268G>A , CM000679.2:g.63497268G>A	GRCh38
NC_000017.10:g.61574629G>A , CM000679.1:g.61574629G>A	GRCh37
NC_000017.9:g.58928361G>A	NCBI36
NG_011648.1:g.25196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3823G>A MANE Select	ENSP00000290866.4:p.Gly1275Ser
ENST00000290863.10:c.2101G>A	ENSP00000290863.6:p.Gly701Ser
ENST00000290866.9:c.3823G>A	ENSP00000290866.4:p.Gly1275Ser
ENST00000413513.7:c.1978G>A	ENSP00000392247.3:p.Gly660Ser
ENST00000428043.5:c.*245G>A	ENSP00000397593.2:n.*245G>A
ENST00000577647.2:c.1969+283G>A	ENSP00000464149.1:n.1969+283G>A
ENST00000578839.5:c.*1578G>A	ENSP00000462110.2:n.*1578G>A
ENST00000579314.5:c.*1552G>A	ENSP00000462599.1:n.*1552G>A
NM_000789.3:c.3823G>A	NP_000780.1:p.Gly1275Ser
NM_001178057.1:c.1978G>A	NP_001171528.1:p.Gly660Ser
NM_152830.2:c.2101G>A	NP_690043.1:p.Gly701Ser
XM_005257110.1:c.3274G>A	XP_005257167.1:p.Gly1092Ser
XM_006721737.2:c.2161G>A	XP_006721800.2:p.Gly721Ser
XM_006721737.3:c.2161G>A	XP_006721800.2:p.Gly721Ser
NM_000789.4:c.3823G>A MANE Select	NP_000780.1:p.Gly1275Ser
NM_001178057.2:c.1978G>A	NP_001171528.1:p.Gly660Ser
NM_152830.3:c.2101G>A	NP_690043.1:p.Gly701Ser
NM_001382700.1:c.3256G>A	NP_001369629.1:p.Gly1086Ser
NM_001382701.1:c.2971G>A	NP_001369630.1:p.Gly991Ser
NM_001382702.1:c.1438G>A	NP_001369631.1:p.Gly480Ser
NR_168483.1:n.2201G>A