Canonical Allele Identifier: CA400569378

Gene: ACE

Linked Data

• dbSNP Id: rs2030824372
• gnomAD v3: 17-63497305-G-A
• gnomAD v4: 17-63497305-G-A
• MyVariant Identifiers: chr17:g.61574666G>A (hg19) ; chr17:g.63497305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497305G>A , CM000679.2:g.63497305G>A	GRCh38
NC_000017.10:g.61574666G>A , CM000679.1:g.61574666G>A	GRCh37
NC_000017.9:g.58928398G>A	NCBI36
NG_011648.1:g.25233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3860G>A MANE Select	ENSP00000290866.4:p.Ser1287Asn
ENST00000290863.10:c.2138G>A	ENSP00000290863.6:p.Ser713Asn
ENST00000290866.9:c.3860G>A	ENSP00000290866.4:p.Ser1287Asn
ENST00000413513.7:c.2015G>A	ENSP00000392247.3:p.Ser672Asn
ENST00000428043.5:c.*282G>A	ENSP00000397593.2:n.*282G>A
ENST00000577647.2:c.1969+320G>A	ENSP00000464149.1:n.1969+320G>A
ENST00000578839.5:c.*1615G>A	ENSP00000462110.2:n.*1615G>A
ENST00000579314.5:c.*1589G>A	ENSP00000462599.1:n.*1589G>A
NM_000789.3:c.3860G>A	NP_000780.1:p.Ser1287Asn
NM_001178057.1:c.2015G>A	NP_001171528.1:p.Ser672Asn
NM_152830.2:c.2138G>A	NP_690043.1:p.Ser713Asn
XM_005257110.1:c.3311G>A	XP_005257167.1:p.Ser1104Asn
XM_006721737.2:c.2198G>A	XP_006721800.2:p.Ser733Asn
XM_006721737.3:c.2198G>A	XP_006721800.2:p.Ser733Asn
NM_000789.4:c.3860G>A MANE Select	NP_000780.1:p.Ser1287Asn
NM_001178057.2:c.2015G>A	NP_001171528.1:p.Ser672Asn
NM_152830.3:c.2138G>A	NP_690043.1:p.Ser713Asn
NM_001382700.1:c.3293G>A	NP_001369629.1:p.Ser1098Asn
NM_001382701.1:c.3008G>A	NP_001369630.1:p.Ser1003Asn
NM_001382702.1:c.1475G>A	NP_001369631.1:p.Ser492Asn
NR_168483.1:n.2238G>A