Canonical Allele Identifier: CA14440588
Gene: TRIM47 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75876867A>G
GRCh37 chr17:g.73872948A>G
gnomAD v2:
17:73872948 A / G
gnomAD v3:
17:75876867 A / G
gnomAD v4:
chr17-75876867-A-G
Joint Max Group AF 0.75167075 (AFR)
Genomes Max Group AF 0.74345311 (AFR)
Exomes Max Group AF 0.75719798 (AFR)
dbSNP:
1055129
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75876867A>G , CM000679.2:g.75876867A>G GRCh38
NC_000017.10:g.73872948A>G , CM000679.1:g.73872948A>G GRCh37
NC_000017.9:g.71384543A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254816.6:c.676-54T>C MANE Select ENSP00000254816.1:n.676-54T>C
ENST00000254816.5:c.676-54T>C ENSP00000254816.1:n.676-54T>C
ENST00000586495.1:c.-93T>C ENSP00000465038.1:n.-93T>C
ENST00000587339.2:c.347-54T>C
ENST00000587774.1:n.341-54T>C
NM_033452.2:c.676-54T>C NP_258411.2:n.676-54T>C
XM_005257787.3:c.-39-54T>C XP_005257844.1:n.-39-54T>C
XM_005257788.3:c.-39-54T>C XP_005257845.1:n.-39-54T>C
XM_005257787.4:c.-39-54T>C XP_005257844.1:n.-39-54T>C
XM_005257788.5:c.-39-54T>C XP_005257845.1:n.-39-54T>C
NM_033452.3:c.676-54T>C MANE Select NP_258411.2:n.676-54T>C
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