Canonical Allele Identifier: CA2625856805
Gene: TMED8 HGNC NCBI

Linked Data

gnomAD v4: 14-77339031-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77339031A>T , CM000676.2:g.77339031A>T GRCh38
NC_000014.8:g.77805374A>T , CM000676.1:g.77805374A>T GRCh37
NC_000014.7:g.76875127A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216468.8:c.*2740T>A MANE Select ENSP00000216468.7:n.*2740T>A
ENST00000216468.7:c.*2740T>A ENSP00000216468.7:n.*2740T>A
XM_005267544.3:c.*2740T>A XP_005267601.1:n.*2740T>A
NM_001346131.1:c.*2740T>A NP_001333060.1:n.*2740T>A
NM_001346133.1:c.*2740T>A NP_001333062.1:n.*2740T>A
NM_001346134.1:c.*2740T>A NP_001333063.1:n.*2740T>A
NM_213601.2:c.*2740T>A NP_998766.1:n.*2740T>A
XM_017021224.1:c.*2740T>A XP_016876713.1:n.*2740T>A
NM_213601.3:c.*2740T>A MANE Select NP_998766.1:n.*2740T>A
NM_001346131.2:c.*2740T>A NP_001333060.1:n.*2740T>A
NM_001346133.2:c.*2740T>A NP_001333062.1:n.*2740T>A
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