Canonical Allele Identifier: CA15087801
Gene: TTC34 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2792599C>A
GRCh37 chr1:g.2709164C>A
gnomAD v2:
1:2709164 C / A
gnomAD v3:
1:2792599 C / A
gnomAD v4:
chr1-2792599-C-A
Joint Max Group AF 0.53053103 (EAS)
Genomes Max Group AF 0.53053103 (EAS)
dbSNP:
4648356
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2792599C>A , CM000663.2:g.2792599C>A GRCh38
NC_000001.10:g.2709164C>A , CM000663.1:g.2709164C>A GRCh37
NC_000001.9:g.2699024C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000401095.9:c.785-2253G>T MANE Select ENSP00000383873.4:n.785-2253G>T
ENST00000401095.8:c.785-2253G>T ENSP00000383873.4:n.785-2253G>T
NM_001242672.2:c.785-2253G>T NP_001229601.2:n.785-2253G>T
NM_001242672.3:c.785-2253G>T MANE Select NP_001229601.2:n.785-2253G>T
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