Canonical Allele Identifier: CA7855138

Gene: THOC6

Linked Data

• dbSNP Id: rs772716405
• ExAC: 16:3077136 G / A
• gnomAD v2: 16-3077136-G-A
• gnomAD v3: 16-3027135-G-A
• gnomAD v4: 16-3027135-G-A
• MyVariant Identifiers: chr16:g.3077136G>A (hg19) ; chr16:g.3027135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3027135G>A , CM000678.2:g.3027135G>A	GRCh38
NC_000016.9:g.3077136G>A , CM000678.1:g.3077136G>A	GRCh37
NC_000016.8:g.3017137G>A	NCBI36
NG_052595.1:g.8117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326266.13:c.700-35G>A MANE Select	ENSP00000326531.8:n.700-35G>A
ENST00000253952.9:c.700-35G>A	ENSP00000253952.9:n.700-35G>A
ENST00000326266.12:c.700-35G>A	ENSP00000326531.8:n.700-35G>A
ENST00000574549.5:c.628-35G>A	ENSP00000458295.1:n.628-35G>A
ENST00000575576.5:c.628-35G>A	ENSP00000460015.1:n.628-35G>A
NM_001142350.1:c.700-35G>A	NP_001135822.1:n.700-35G>A
NM_024339.3:c.700-35G>A	NP_077315.2:n.700-35G>A
NM_001142350.2:c.700-35G>A	NP_001135822.1:n.700-35G>A
NM_001347703.1:c.628-35G>A	NP_001334632.1:n.628-35G>A
NM_001347704.1:c.700-35G>A	NP_001334633.1:n.700-35G>A
NM_024339.4:c.700-35G>A	NP_077315.2:n.700-35G>A
NM_024339.5:c.700-35G>A MANE Select	NP_077315.2:n.700-35G>A
NM_001142350.3:c.700-35G>A	NP_001135822.1:n.700-35G>A
NM_001347703.2:c.628-35G>A	NP_001334632.1:n.628-35G>A
NM_001347704.2:c.700-35G>A	NP_001334633.1:n.700-35G>A