Canonical Allele Identifier: CA16071542
Gene: TEX35 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.178522744T>C
GRCh37 chr1:g.178491879T>C
gnomAD v2:
1:178491879 T / C
gnomAD v3:
1:178522744 T / C
gnomAD v4:
chr1-178522744-T-C
Joint Max Group AF 0.2328111 (AFR)
Genomes Max Group AF 0.23109472 (AFR)
Exomes Max Group AF 0.23285006 (AFR)
dbSNP:
12023718
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.178522744T>C , CM000663.2:g.178522744T>C GRCh38
NC_000001.10:g.178491879T>C , CM000663.1:g.178491879T>C GRCh37
NC_000001.9:g.176758502T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367639.1:c.611-558T>C ENSP00000356611.1:n.611-558T>C
ENST00000419909.6:c.*341+1480T>C ENSP00000430720.1:n.*341+1480T>C
NM_001170722.1:c.611-558T>C NP_001164193.1:n.611-558T>C
NM_001170724.1:c.587-558T>C NP_001164195.1:n.587-558T>C
NM_001170722.2:c.611-558T>C NP_001164193.1:n.611-558T>C
NM_001170724.2:c.587-558T>C NP_001164195.1:n.587-558T>C
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