Canonical Allele Identifier: CA8700673

Gene: ACE

Linked Data

• dbSNP Id: rs770016471
• ExAC: 17:61574621 C / G
• gnomAD v2: 17-61574621-C-G
• gnomAD v3: 17-63497260-C-G
• gnomAD v4: 17-63497260-C-G
• MyVariant Identifiers: chr17:g.61574621C>G (hg19) ; chr17:g.63497260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497260C>G , CM000679.2:g.63497260C>G	GRCh38
NC_000017.10:g.61574621C>G , CM000679.1:g.61574621C>G	GRCh37
NC_000017.9:g.58928353C>G	NCBI36
NG_011648.1:g.25188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3815C>G MANE Select	ENSP00000290866.4:p.Ala1272Gly
ENST00000290863.10:c.2093C>G	ENSP00000290863.6:p.Ala698Gly
ENST00000290866.9:c.3815C>G	ENSP00000290866.4:p.Ala1272Gly
ENST00000413513.7:c.1970C>G	ENSP00000392247.3:p.Ala657Gly
ENST00000428043.5:c.*237C>G	ENSP00000397593.2:n.*237C>G
ENST00000577647.2:c.1969+275C>G	ENSP00000464149.1:n.1969+275C>G
ENST00000578839.5:c.*1570C>G	ENSP00000462110.2:n.*1570C>G
ENST00000579314.5:c.*1544C>G	ENSP00000462599.1:n.*1544C>G
NM_000789.3:c.3815C>G	NP_000780.1:p.Ala1272Gly
NM_001178057.1:c.1970C>G	NP_001171528.1:p.Ala657Gly
NM_152830.2:c.2093C>G	NP_690043.1:p.Ala698Gly
XM_005257110.1:c.3266C>G	XP_005257167.1:p.Ala1089Gly
XM_006721737.2:c.2153C>G	XP_006721800.2:p.Ala718Gly
XM_006721737.3:c.2153C>G	XP_006721800.2:p.Ala718Gly
NM_000789.4:c.3815C>G MANE Select	NP_000780.1:p.Ala1272Gly
NM_001178057.2:c.1970C>G	NP_001171528.1:p.Ala657Gly
NM_152830.3:c.2093C>G	NP_690043.1:p.Ala698Gly
NM_001382700.1:c.3248C>G	NP_001369629.1:p.Ala1083Gly
NM_001382701.1:c.2963C>G	NP_001369630.1:p.Ala988Gly
NM_001382702.1:c.1430C>G	NP_001369631.1:p.Ala477Gly
NR_168483.1:n.2193C>G