Canonical Allele Identifier: CA394465524

Gene: THOC6

Linked Data

• gnomAD v4: 16-3025804-G-C
• MyVariant Identifiers: chr16:g.3075805G>C (hg19) ; chr16:g.3025804G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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