Canonical Allele Identifier: CA9327397
Gene: TSSK6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.19514962C>T
GRCh37 chr19:g.19625771C>T
Revel Score:
ENST00000360913 0.691
gnomAD v2:
19:19625771 C / T
gnomAD v4:
chr19-19514962-C-T
Joint Max Group AF 0.00001338 (AMR)
Exomes Max Group AF 0.000018 (AMR)
ClinVar RCV:
RCV004476803
ClinVar Variation:
3183986
dbSNP:
746873199
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19514962C>T , CM000681.2:g.19514962C>T GRCh38
NC_000019.9:g.19625771C>T , CM000681.1:g.19625771C>T GRCh37
NC_000019.8:g.19486771C>T NCBI36
NG_013380.1:g.3753C>T
NG_033078.1:g.5699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585580.4:c.466G>A MANE Select ENSP00000466477.1:p.Gly156Ser
ENST00000585580.3:c.466G>A ENSP00000466477.1:p.Gly156Ser
ENST00000587522.3:c.466G>A ENSP00000466056.1:p.Gly156Ser
NM_032037.3:c.466G>A NP_114426.1:p.Gly156Ser
NM_032037.4:c.466G>A MANE Select NP_114426.1:p.Gly156Ser
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