Canonical Allele Identifier: CA2625856804
Gene: TMED8 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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