Canonical Allele Identifier: CA8700648

Gene: ACE

Linked Data

• dbSNP Id: rs781198085
• ExAC: 17:61574531 G / A
• gnomAD v2: 17-61574531-G-A
• gnomAD v3: 17-63497170-G-A
• gnomAD v4: 17-63497170-G-A
• MyVariant Identifiers: chr17:g.61574531G>A (hg19) ; chr17:g.63497170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497170G>A , CM000679.2:g.63497170G>A	GRCh38
NC_000017.10:g.61574531G>A , CM000679.1:g.61574531G>A	GRCh37
NC_000017.9:g.58928263G>A	NCBI36
NG_011648.1:g.25098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3725G>A MANE Select	ENSP00000290866.4:p.Arg1242His
ENST00000290863.10:c.2003G>A	ENSP00000290863.6:p.Arg668His
ENST00000290866.9:c.3725G>A	ENSP00000290866.4:p.Arg1242His
ENST00000413513.7:c.1880G>A	ENSP00000392247.3:p.Arg627His
ENST00000428043.5:c.*147G>A	ENSP00000397593.2:n.*147G>A
ENST00000577647.2:c.1969+185G>A	ENSP00000464149.1:n.1969+185G>A
ENST00000578839.5:c.*1480G>A	ENSP00000462110.2:n.*1480G>A
ENST00000579314.5:c.*1454G>A	ENSP00000462599.1:n.*1454G>A
NM_000789.3:c.3725G>A	NP_000780.1:p.Arg1242His
NM_001178057.1:c.1880G>A	NP_001171528.1:p.Arg627His
NM_152830.2:c.2003G>A	NP_690043.1:p.Arg668His
XM_005257110.1:c.3176G>A	XP_005257167.1:p.Arg1059His
XM_006721737.2:c.2063G>A	XP_006721800.2:p.Arg688His
XM_006721737.3:c.2063G>A	XP_006721800.2:p.Arg688His
NM_000789.4:c.3725G>A MANE Select	NP_000780.1:p.Arg1242His
NM_001178057.2:c.1880G>A	NP_001171528.1:p.Arg627His
NM_152830.3:c.2003G>A	NP_690043.1:p.Arg668His
NM_001382700.1:c.3158G>A	NP_001369629.1:p.Arg1053His
NM_001382701.1:c.2873G>A	NP_001369630.1:p.Arg958His
NM_001382702.1:c.1340G>A	NP_001369631.1:p.Arg447His
NR_168483.1:n.2103G>A