Canonical Allele Identifier: CA615065704
Gene: TMED10 HGNC NCBI

Linked Data

dbSNP Id: rs1415123242
gnomAD v2: 14-75601750-C-T
gnomAD v3: 14-75135047-C-T
gnomAD v4: 14-75135047-C-T
MyVariant Identifiers: chr14:g.75601750C>T (hg19) chr14:g.75135047C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75135047C>T , CM000676.2:g.75135047C>T GRCh38
NC_000014.8:g.75601750C>T , CM000676.1:g.75601750C>T GRCh37
NC_000014.7:g.74671503C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303575.9:c.539-41G>A MANE Select ENSP00000303145.4:n.539-41G>A
ENST00000303575.8:c.539-41G>A ENSP00000303145.4:n.539-41G>A
ENST00000555036.1:n.322-41G>A
ENST00000555873.1:c.*175-41G>A ENSP00000450726.1:n.*175-41G>A
ENST00000556969.5:n.246-41G>A
ENST00000557670.5:n.267-41G>A
NM_006827.5:c.539-41G>A NP_006818.3:n.539-41G>A
NM_006827.6:c.539-41G>A MANE Select NP_006818.3:n.539-41G>A
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