Canonical Allele Identifier: CA400568399

Gene: ACE

Linked Data

• gnomAD v4: 17-63497163-A-G
• MyVariant Identifiers: chr17:g.61574524A>G (hg19) ; chr17:g.63497163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497163A>G , CM000679.2:g.63497163A>G	GRCh38
NC_000017.10:g.61574524A>G , CM000679.1:g.61574524A>G	GRCh37
NC_000017.9:g.58928256A>G	NCBI36
NG_011648.1:g.25091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3718A>G MANE Select	ENSP00000290866.4:p.Ser1240Gly
ENST00000290863.10:c.1996A>G	ENSP00000290863.6:p.Ser666Gly
ENST00000290866.9:c.3718A>G	ENSP00000290866.4:p.Ser1240Gly
ENST00000413513.7:c.1873A>G	ENSP00000392247.3:p.Ser625Gly
ENST00000428043.5:c.*140A>G	ENSP00000397593.2:n.*140A>G
ENST00000577418.5:n.728A>G
ENST00000577647.2:c.1969+178A>G	ENSP00000464149.1:n.1969+178A>G
ENST00000578839.5:c.*1473A>G	ENSP00000462110.2:n.*1473A>G
ENST00000579314.5:c.*1447A>G	ENSP00000462599.1:n.*1447A>G
NM_000789.3:c.3718A>G	NP_000780.1:p.Ser1240Gly
NM_001178057.1:c.1873A>G	NP_001171528.1:p.Ser625Gly
NM_152830.2:c.1996A>G	NP_690043.1:p.Ser666Gly
XM_005257110.1:c.3169A>G	XP_005257167.1:p.Ser1057Gly
XM_006721737.2:c.2056A>G	XP_006721800.2:p.Ser686Gly
XM_006721737.3:c.2056A>G	XP_006721800.2:p.Ser686Gly
NM_000789.4:c.3718A>G MANE Select	NP_000780.1:p.Ser1240Gly
NM_001178057.2:c.1873A>G	NP_001171528.1:p.Ser625Gly
NM_152830.3:c.1996A>G	NP_690043.1:p.Ser666Gly
NM_001382700.1:c.3151A>G	NP_001369629.1:p.Ser1051Gly
NM_001382701.1:c.2866A>G	NP_001369630.1:p.Ser956Gly
NM_001382702.1:c.1333A>G	NP_001369631.1:p.Ser445Gly
NR_168483.1:n.2096A>G