Canonical Allele Identifier: CA6364965
Gene: ADAMTS8 HGNC NCBI
ZBTB44-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 254118
ClinVar RCV Id: RCV000240273
dbSNP Id: rs199760382
ExAC: 11:130276014 G / T
gnomAD v2: 11-130276014-G-T
gnomAD v4: 11-130406119-G-T
MyVariant Identifiers: chr11:g.130276014G>T (hg19) chr11:g.130406119G>T (hg38)
PubMed: PMID:28299356
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.130406119G>T , CM000673.2:g.130406119G>T GRCh38
NC_000011.9:g.130276014G>T , CM000673.1:g.130276014G>T GRCh37
NC_000011.8:g.129781224G>T NCBI36
NG_052870.1:g.27875C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257359.7:c.2109C>A (ADAMTS8) MANE Select ENSP00000257359.6:p.Tyr703Ter
ENST00000257359.6:c.2109C>A (ADAMTS8) ENSP00000257359.6:p.Tyr703Ter
ENST00000531752.1:n.1056C>A (ADAMTS8)
NM_007037.4:c.2109C>A (ADAMTS8) NP_008968.4:p.Tyr703Ter
XR_948183.1:n.458+12320G>T (ZBTB44-DT)
XR_948187.1:n.458+12320G>T (ZBTB44-DT)
NM_007037.5:c.2109C>A (ADAMTS8) NP_008968.4:p.Tyr703Ter
XM_017017145.1:c.2061C>A (ADAMTS8) XP_016872634.1:p.Tyr687Ter
NM_007037.6:c.2109C>A (ADAMTS8) MANE Select NP_008968.4:p.Tyr703Ter
Search 100 bp 5'
Search 100 bp 3'