Canonical Allele Identifier: CA144732
Gene: THOC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 64681
ClinVar RCV Id: RCV000054832
dbSNP Id: rs587777030
ExAC: 16:3075805 G / A
gnomAD v2: 16-3075805-G-A
gnomAD v3: 16-3025804-G-A
gnomAD v4: 16-3025804-G-A
MyVariant Identifiers: chr16:g.3075805G>A (hg19) chr16:g.3025804G>A (hg38)
PubMed: PMID:23621916
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3025804G>A , CM000678.2:g.3025804G>A GRCh38
NC_000016.9:g.3075805G>A , CM000678.1:g.3075805G>A GRCh37
NC_000016.8:g.3015806G>A NCBI36
NG_052595.1:g.6786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326266.13:c.136G>A MANE Select ENSP00000326531.8:p.Gly46Arg
ENST00000253952.9:c.136G>A ENSP00000253952.9:p.Gly46Arg
ENST00000326266.12:c.136G>A ENSP00000326531.8:p.Gly46Arg
ENST00000571046.1:n.325G>A
ENST00000571057.5:n.420G>A
ENST00000573704.5:n.402G>A
ENST00000574498.5:n.403G>A
ENST00000574549.5:c.64G>A ENSP00000458295.1:p.Gly22Arg
ENST00000574957.1:n.432G>A
ENST00000575576.5:c.64G>A ENSP00000460015.1:p.Gly22Arg
ENST00000576143.5:n.436G>A
NM_001142350.1:c.136G>A NP_001135822.1:p.Gly46Arg
NM_024339.3:c.136G>A NP_077315.2:p.Gly46Arg
NM_001142350.2:c.136G>A NP_001135822.1:p.Gly46Arg
NM_001347703.1:c.64G>A NP_001334632.1:p.Gly22Arg
NM_001347704.1:c.136G>A NP_001334633.1:p.Gly46Arg
NM_024339.4:c.136G>A NP_077315.2:p.Gly46Arg
NM_024339.5:c.136G>A MANE Select NP_077315.2:p.Gly46Arg
NM_001142350.3:c.136G>A NP_001135822.1:p.Gly46Arg
NM_001347703.2:c.64G>A NP_001334632.1:p.Gly22Arg
NM_001347704.2:c.136G>A NP_001334633.1:p.Gly46Arg
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