Canonical Allele Identifier: CA8699590
Gene: ACE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.63483494C>T
GRCh37 chr17:g.61560855C>T
gnomAD v2:
17:61560855 C / T
gnomAD v3:
17:63483494 C / T
gnomAD v4:
chr17-63483494-C-T
Joint Max Group AF 0.00007077 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00007135 (NFE)
ClinVar RCV:
RCV000224863
RCV000399495
ClinVar Variation:
235336
dbSNP:
367797185
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483494C>T , CM000679.2:g.63483494C>T GRCh38
NC_000017.10:g.61560855C>T , CM000679.1:g.61560855C>T GRCh37
NC_000017.9:g.58914587C>T NCBI36
NG_011648.1:g.11422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1522C>T MANE Select ENSP00000290866.4:p.Arg508Ter
ENST00000290866.9:c.1522C>T ENSP00000290866.4:p.Arg508Ter
ENST00000428043.5:c.1522C>T ENSP00000397593.2:p.Arg508Ter
ENST00000582678.5:c.*921C>T ENSP00000462995.1:n.*921C>T
ENST00000584529.5:n.1411C>T
NM_000789.3:c.1522C>T NP_000780.1:p.Arg508Ter
XM_005257110.1:c.973C>T XP_005257167.1:p.Arg325Ter
NM_000789.4:c.1522C>T MANE Select NP_000780.1:p.Arg508Ter
NM_001382700.1:c.955C>T NP_001369629.1:p.Arg319Ter
NM_001382701.1:c.670C>T NP_001369630.1:p.Arg224Ter
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