Canonical Allele Identifier: CA13383865
Gene: VPS37C HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.61138978A>G
GRCh37 chr11:g.60906450A>G
gnomAD v2:
11:60906450 A / G
gnomAD v3:
11:61138978 A / G
gnomAD v4:
chr11-61138978-A-G
Joint Max Group AF 0.98981329 (EAS)
Genomes Max Group AF 0.97379226 (EAS)
Exomes Max Group AF 0.98944359 (EAS)
dbSNP:
508970
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61138978A>G , CM000673.2:g.61138978A>G GRCh38
NC_000011.9:g.60906450A>G , CM000673.1:g.60906450A>G GRCh37
NC_000011.8:g.60663026A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301765.10:c.-6-143T>C MANE Select ENSP00000301765.5:n.-6-143T>C
ENST00000301765.9:c.-6-143T>C ENSP00000301765.5:n.-6-143T>C
ENST00000535818.1:n.226-143T>C
ENST00000536000.1:n.64-143T>C
ENST00000538036.1:c.-6-143T>C ENSP00000446013.1:n.-6-143T>C
NM_017966.4:c.-6-143T>C NP_060436.4:n.-6-143T>C
XM_005274077.2:c.-6-143T>C XP_005274134.1:n.-6-143T>C
XM_005274077.3:c.-6-143T>C XP_005274134.1:n.-6-143T>C
NM_017966.5:c.-6-143T>C MANE Select NP_060436.4:n.-6-143T>C
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