Canonical Allele Identifier: CA127777
Gene: ACE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.63480479C>G
GRCh37 chr17:g.61557840C>G
gnomAD v2:
17:61557840 C / G
gnomAD v3:
17:63480479 C / G
gnomAD v4:
chr17-63480479-C-G
Joint Max Group AF 0.00000688 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar Allele:
33102
ClinVar RCV:
RCV000019686
ClinVar Variation:
18063
dbSNP:
121912704
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63480479C>G , CM000679.2:g.63480479C>G GRCh38
NC_000017.10:g.61557840C>G , CM000679.1:g.61557840C>G GRCh37
NC_000017.9:g.58911572C>G NCBI36
NG_011648.1:g.8407C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.798C>G MANE Select ENSP00000290866.4:p.Tyr266Ter
ENST00000290866.9:c.798C>G ENSP00000290866.4:p.Tyr266Ter
ENST00000428043.5:c.798C>G ENSP00000397593.2:p.Tyr266Ter
ENST00000582627.1:c.798C>G ENSP00000462280.1:p.Tyr266Ter
ENST00000582678.5:c.*197C>G ENSP00000462995.1:n.*197C>G
ENST00000584529.5:n.832C>G
NM_000789.3:c.798C>G NP_000780.1:p.Tyr266Ter
XM_005257110.1:c.249C>G XP_005257167.1:p.Tyr83Ter
NM_000789.4:c.798C>G MANE Select NP_000780.1:p.Tyr266Ter
NM_001382700.1:c.325C>G NP_001369629.1:p.Arg109Gly
NM_001382701.1:c.-55C>G NP_001369630.1:n.-55C>G
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