Canonical Allele Identifier: CA394474228

Gene: THOC6

Linked Data

• ClinVar Variation Id: 520613
• ClinVar RCV Id: RCV000623020 ; RCV000680239
• dbSNP Id: rs1555498821
• gnomAD v4: 16-3027218-A-C
• MyVariant Identifiers: chr16:g.3077219A>C (hg19) ; chr16:g.3027218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3027218A>C , CM000678.2:g.3027218A>C	GRCh38
NC_000016.9:g.3077219A>C , CM000678.1:g.3077219A>C	GRCh37
NC_000016.8:g.3017220A>C	NCBI36
NG_052595.1:g.8200A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326266.13:c.748A>C MANE Select	ENSP00000326531.8:p.Thr250Pro
ENST00000253952.9:c.748A>C	ENSP00000253952.9:p.Thr250Pro
ENST00000326266.12:c.748A>C	ENSP00000326531.8:p.Thr250Pro
ENST00000574549.5:c.676A>C	ENSP00000458295.1:p.Thr226Pro
ENST00000575576.5:c.676A>C	ENSP00000460015.1:p.Thr226Pro
NM_001142350.1:c.748A>C	NP_001135822.1:p.Thr250Pro
NM_024339.3:c.748A>C	NP_077315.2:p.Thr250Pro
NM_001142350.2:c.748A>C	NP_001135822.1:p.Thr250Pro
NM_001347703.1:c.676A>C	NP_001334632.1:p.Thr226Pro
NM_001347704.1:c.748A>C	NP_001334633.1:p.Thr250Pro
NM_024339.4:c.748A>C	NP_077315.2:p.Thr250Pro
NM_024339.5:c.748A>C MANE Select	NP_077315.2:p.Thr250Pro
NM_001142350.3:c.748A>C	NP_001135822.1:p.Thr250Pro
NM_001347703.2:c.676A>C	NP_001334632.1:p.Thr226Pro
NM_001347704.2:c.748A>C	NP_001334633.1:p.Thr250Pro