Canonical Allele Identifier: CA615202791

Gene: TMED8

Linked Data

• dbSNP Id: rs1419770668
• gnomAD v2: 14-77805465-C-A
• gnomAD v3: 14-77339122-C-A
• gnomAD v4: 14-77339122-C-A
• MyVariant Identifiers: chr14:g.77805465C>A (hg19) ; chr14:g.77339122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77339122C>A , CM000676.2:g.77339122C>A	GRCh38
NC_000014.8:g.77805465C>A , CM000676.1:g.77805465C>A	GRCh37
NC_000014.7:g.76875218C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216468.8:c.*2649G>T MANE Select	ENSP00000216468.7:n.*2649G>T
ENST00000216468.7:c.*2649G>T	ENSP00000216468.7:n.*2649G>T
XM_005267544.3:c.*2649G>T	XP_005267601.1:n.*2649G>T
NM_001346131.1:c.*2649G>T	NP_001333060.1:n.*2649G>T
NM_001346133.1:c.*2649G>T	NP_001333062.1:n.*2649G>T
NM_001346134.1:c.*2649G>T	NP_001333063.1:n.*2649G>T
NM_213601.2:c.*2649G>T	NP_998766.1:n.*2649G>T
XM_017021224.1:c.*2649G>T	XP_016876713.1:n.*2649G>T
NM_213601.3:c.*2649G>T MANE Select	NP_998766.1:n.*2649G>T
NM_001346131.2:c.*2649G>T	NP_001333060.1:n.*2649G>T
NM_001346133.2:c.*2649G>T	NP_001333062.1:n.*2649G>T