Canonical Allele Identifier: CA400568308

Gene: ACE

Linked Data

• gnomAD v4: 17-63497145-G-A
• MyVariant Identifiers: chr17:g.61574506G>A (hg19) ; chr17:g.63497145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497145G>A , CM000679.2:g.63497145G>A	GRCh38
NC_000017.10:g.61574506G>A , CM000679.1:g.61574506G>A	GRCh37
NC_000017.9:g.58928238G>A	NCBI36
NG_011648.1:g.25073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3700G>A MANE Select	ENSP00000290866.4:p.Glu1234Lys
ENST00000290863.10:c.1978G>A	ENSP00000290863.6:p.Glu660Lys
ENST00000290866.9:c.3700G>A	ENSP00000290866.4:p.Glu1234Lys
ENST00000413513.7:c.1855G>A	ENSP00000392247.3:p.Glu619Lys
ENST00000428043.5:c.*122G>A	ENSP00000397593.2:n.*122G>A
ENST00000577418.5:n.710G>A
ENST00000577647.2:c.1969+160G>A	ENSP00000464149.1:n.1969+160G>A
ENST00000578839.5:c.*1455G>A	ENSP00000462110.2:n.*1455G>A
ENST00000579314.5:c.*1429G>A	ENSP00000462599.1:n.*1429G>A
ENST00000579409.1:c.538G>A
NM_000789.3:c.3700G>A	NP_000780.1:p.Glu1234Lys
NM_001178057.1:c.1855G>A	NP_001171528.1:p.Glu619Lys
NM_152830.2:c.1978G>A	NP_690043.1:p.Glu660Lys
XM_005257110.1:c.3151G>A	XP_005257167.1:p.Glu1051Lys
XM_006721737.2:c.2038G>A	XP_006721800.2:p.Glu680Lys
XM_006721737.3:c.2038G>A	XP_006721800.2:p.Glu680Lys
NM_000789.4:c.3700G>A MANE Select	NP_000780.1:p.Glu1234Lys
NM_001178057.2:c.1855G>A	NP_001171528.1:p.Glu619Lys
NM_152830.3:c.1978G>A	NP_690043.1:p.Glu660Lys
NM_001382700.1:c.3133G>A	NP_001369629.1:p.Glu1045Lys
NM_001382701.1:c.2848G>A	NP_001369630.1:p.Glu950Lys
NM_001382702.1:c.1315G>A	NP_001369631.1:p.Glu439Lys
NR_168483.1:n.2078G>A