Canonical Allele Identifier: CA2625856840

Gene: TMED8

Linked Data

• gnomAD v4: 14-77339078-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77339078G>T , CM000676.2:g.77339078G>T	GRCh38
NC_000014.8:g.77805421G>T , CM000676.1:g.77805421G>T	GRCh37
NC_000014.7:g.76875174G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216468.8:c.*2693C>A MANE Select	ENSP00000216468.7:n.*2693C>A
ENST00000216468.7:c.*2693C>A	ENSP00000216468.7:n.*2693C>A
XM_005267544.3:c.*2693C>A	XP_005267601.1:n.*2693C>A
NM_001346131.1:c.*2693C>A	NP_001333060.1:n.*2693C>A
NM_001346133.1:c.*2693C>A	NP_001333062.1:n.*2693C>A
NM_001346134.1:c.*2693C>A	NP_001333063.1:n.*2693C>A
NM_213601.2:c.*2693C>A	NP_998766.1:n.*2693C>A
XM_017021224.1:c.*2693C>A	XP_016876713.1:n.*2693C>A
NM_213601.3:c.*2693C>A MANE Select	NP_998766.1:n.*2693C>A
NM_001346131.2:c.*2693C>A	NP_001333060.1:n.*2693C>A
NM_001346133.2:c.*2693C>A	NP_001333062.1:n.*2693C>A