Canonical Allele Identifier: CA501342340

Gene: ACE

Linked Data

• dbSNP Id: rs1239908508
• gnomAD v2: 17-61574583-G-A
• gnomAD v4: 17-63497222-G-A
• MyVariant Identifiers: chr17:g.61574583G>A (hg19) ; chr17:g.63497222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497222G>A , CM000679.2:g.63497222G>A	GRCh38
NC_000017.10:g.61574583G>A , CM000679.1:g.61574583G>A	GRCh37
NC_000017.9:g.58928315G>A	NCBI36
NG_011648.1:g.25150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3777G>A MANE Select	ENSP00000290866.4:p.Gln1259=
ENST00000290863.10:c.2055G>A	ENSP00000290863.6:p.Gln685=
ENST00000290866.9:c.3777G>A	ENSP00000290866.4:p.Gln1259=
ENST00000413513.7:c.1932G>A	ENSP00000392247.3:p.Gln644=
ENST00000428043.5:c.*199G>A	ENSP00000397593.2:n.*199G>A
ENST00000577647.2:c.1969+237G>A	ENSP00000464149.1:n.1969+237G>A
ENST00000578839.5:c.*1532G>A	ENSP00000462110.2:n.*1532G>A
ENST00000579314.5:c.*1506G>A	ENSP00000462599.1:n.*1506G>A
NM_000789.3:c.3777G>A	NP_000780.1:p.Gln1259=
NM_001178057.1:c.1932G>A	NP_001171528.1:p.Gln644=
NM_152830.2:c.2055G>A	NP_690043.1:p.Gln685=
XM_005257110.1:c.3228G>A	XP_005257167.1:p.Gln1076=
XM_006721737.2:c.2115G>A	XP_006721800.2:p.Gln705=
XM_006721737.3:c.2115G>A	XP_006721800.2:p.Gln705=
NM_000789.4:c.3777G>A MANE Select	NP_000780.1:p.Gln1259=
NM_001178057.2:c.1932G>A	NP_001171528.1:p.Gln644=
NM_152830.3:c.2055G>A	NP_690043.1:p.Gln685=
NM_001382700.1:c.3210G>A	NP_001369629.1:p.Gln1070=
NM_001382701.1:c.2925G>A	NP_001369630.1:p.Gln975=
NM_001382702.1:c.1392G>A	NP_001369631.1:p.Gln464=
NR_168483.1:n.2155G>A