Canonical Allele Identifier: CA14438265
Gene: ACE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.63483402T>C
GRCh37 chr17:g.61560763T>C
gnomAD v2:
17:61560763 T / C
gnomAD v3:
17:63483402 T / C
gnomAD v4:
chr17-63483402-T-C
Joint Max Group AF 0.74770392 (AFR)
Genomes Max Group AF 0.74436013 (AFR)
Exomes Max Group AF 0.74708464 (AFR)
ClinVar RCV:
RCV001674922
ClinVar Variation:
1263928
dbSNP:
4311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483402T>C , CM000679.2:g.63483402T>C GRCh38
NC_000017.10:g.61560763T>C , CM000679.1:g.61560763T>C GRCh37
NC_000017.9:g.58914495T>C NCBI36
NG_011648.1:g.11330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1488-58T>C MANE Select ENSP00000290866.4:n.1488-58T>C
ENST00000290866.9:c.1488-58T>C ENSP00000290866.4:n.1488-58T>C
ENST00000428043.5:c.1488-58T>C ENSP00000397593.2:n.1488-58T>C
ENST00000582678.5:c.*887-58T>C ENSP00000462995.1:n.*887-58T>C
ENST00000584529.5:n.1377-58T>C
NM_000789.3:c.1488-58T>C NP_000780.1:n.1488-58T>C
XM_005257110.1:c.939-58T>C XP_005257167.1:n.939-58T>C
NM_000789.4:c.1488-58T>C MANE Select NP_000780.1:n.1488-58T>C
NM_001382700.1:c.921-58T>C NP_001369629.1:n.921-58T>C
NM_001382701.1:c.636-58T>C NP_001369630.1:n.636-58T>C
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