Canonical Allele Identifier: CA400568724

Gene: ACE

Linked Data

• dbSNP Id: rs763049172
• gnomAD v2: 17-61574572-C-A
• gnomAD v4: 17-63497211-C-A
• MyVariant Identifiers: chr17:g.61574572C>A (hg19) ; chr17:g.63497211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497211C>A , CM000679.2:g.63497211C>A	GRCh38
NC_000017.10:g.61574572C>A , CM000679.1:g.61574572C>A	GRCh37
NC_000017.9:g.58928304C>A	NCBI36
NG_011648.1:g.25139C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3766C>A MANE Select	ENSP00000290866.4:p.Arg1256Ser
ENST00000290863.10:c.2044C>A	ENSP00000290863.6:p.Arg682Ser
ENST00000290866.9:c.3766C>A	ENSP00000290866.4:p.Arg1256Ser
ENST00000413513.7:c.1921C>A	ENSP00000392247.3:p.Arg641Ser
ENST00000428043.5:c.*188C>A	ENSP00000397593.2:n.*188C>A
ENST00000577647.2:c.1969+226C>A	ENSP00000464149.1:n.1969+226C>A
ENST00000578839.5:c.*1521C>A	ENSP00000462110.2:n.*1521C>A
ENST00000579314.5:c.*1495C>A	ENSP00000462599.1:n.*1495C>A
NM_000789.3:c.3766C>A	NP_000780.1:p.Arg1256Ser
NM_001178057.1:c.1921C>A	NP_001171528.1:p.Arg641Ser
NM_152830.2:c.2044C>A	NP_690043.1:p.Arg682Ser
XM_005257110.1:c.3217C>A	XP_005257167.1:p.Arg1073Ser
XM_006721737.2:c.2104C>A	XP_006721800.2:p.Arg702Ser
XM_006721737.3:c.2104C>A	XP_006721800.2:p.Arg702Ser
NM_000789.4:c.3766C>A MANE Select	NP_000780.1:p.Arg1256Ser
NM_001178057.2:c.1921C>A	NP_001171528.1:p.Arg641Ser
NM_152830.3:c.2044C>A	NP_690043.1:p.Arg682Ser
NM_001382700.1:c.3199C>A	NP_001369629.1:p.Arg1067Ser
NM_001382701.1:c.2914C>A	NP_001369630.1:p.Arg972Ser
NM_001382702.1:c.1381C>A	NP_001369631.1:p.Arg461Ser
NR_168483.1:n.2144C>A