Canonical Allele Identifier: CA400569010

Gene: ACE

Linked Data

• dbSNP Id: rs1425238764
• gnomAD v4: 17-63497259-G-A
• MyVariant Identifiers: chr17:g.61574620G>A (hg19) ; chr17:g.63497259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497259G>A , CM000679.2:g.63497259G>A	GRCh38
NC_000017.10:g.61574620G>A , CM000679.1:g.61574620G>A	GRCh37
NC_000017.9:g.58928352G>A	NCBI36
NG_011648.1:g.25187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3814G>A MANE Select	ENSP00000290866.4:p.Ala1272Thr
ENST00000290863.10:c.2092G>A	ENSP00000290863.6:p.Ala698Thr
ENST00000290866.9:c.3814G>A	ENSP00000290866.4:p.Ala1272Thr
ENST00000413513.7:c.1969G>A	ENSP00000392247.3:p.Ala657Thr
ENST00000428043.5:c.*236G>A	ENSP00000397593.2:n.*236G>A
ENST00000577647.2:c.1969+274G>A	ENSP00000464149.1:n.1969+274G>A
ENST00000578839.5:c.*1569G>A	ENSP00000462110.2:n.*1569G>A
ENST00000579314.5:c.*1543G>A	ENSP00000462599.1:n.*1543G>A
NM_000789.3:c.3814G>A	NP_000780.1:p.Ala1272Thr
NM_001178057.1:c.1969G>A	NP_001171528.1:p.Ala657Thr
NM_152830.2:c.2092G>A	NP_690043.1:p.Ala698Thr
XM_005257110.1:c.3265G>A	XP_005257167.1:p.Ala1089Thr
XM_006721737.2:c.2152G>A	XP_006721800.2:p.Ala718Thr
XM_006721737.3:c.2152G>A	XP_006721800.2:p.Ala718Thr
NM_000789.4:c.3814G>A MANE Select	NP_000780.1:p.Ala1272Thr
NM_001178057.2:c.1969G>A	NP_001171528.1:p.Ala657Thr
NM_152830.3:c.2092G>A	NP_690043.1:p.Ala698Thr
NM_001382700.1:c.3247G>A	NP_001369629.1:p.Ala1083Thr
NM_001382701.1:c.2962G>A	NP_001369630.1:p.Ala988Thr
NM_001382702.1:c.1429G>A	NP_001369631.1:p.Ala477Thr
NR_168483.1:n.2192G>A