Canonical Allele Identifier: CA8699584
Gene: ACE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.63483482C>T
GRCh37 chr17:g.61560843C>T
Revel Score:
ENST00000290866 (MANE Select) 0.253
ENST00000428043 0.253
gnomAD v2:
17:61560843 C / T
gnomAD v4:
chr17-63483482-C-T
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483482C>T , CM000679.2:g.63483482C>T GRCh38
NC_000017.10:g.61560843C>T , CM000679.1:g.61560843C>T GRCh37
NC_000017.9:g.58914575C>T NCBI36
NG_011648.1:g.11410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1510C>T MANE Select ENSP00000290866.4:p.Pro504Ser
ENST00000290866.9:c.1510C>T ENSP00000290866.4:p.Pro504Ser
ENST00000428043.5:c.1510C>T ENSP00000397593.2:p.Pro504Ser
ENST00000582678.5:c.*909C>T ENSP00000462995.1:n.*909C>T
ENST00000584529.5:n.1399C>T
NM_000789.3:c.1510C>T NP_000780.1:p.Pro504Ser
XM_005257110.1:c.961C>T XP_005257167.1:p.Pro321Ser
NM_000789.4:c.1510C>T MANE Select NP_000780.1:p.Pro504Ser
NM_001382700.1:c.943C>T NP_001369629.1:p.Pro315Ser
NM_001382701.1:c.658C>T NP_001369630.1:p.Pro220Ser
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