Canonical Allele Identifier: CA2631321630
Gene: THOC6 HGNC NCBI

Linked Data

gnomAD v4: 16-3027137-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3027137T>G , CM000678.2:g.3027137T>G GRCh38
NC_000016.9:g.3077138T>G , CM000678.1:g.3077138T>G GRCh37
NC_000016.8:g.3017139T>G NCBI36
NG_052595.1:g.8119T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326266.13:c.700-33T>G MANE Select ENSP00000326531.8:n.700-33T>G
ENST00000253952.9:c.700-33T>G ENSP00000253952.9:n.700-33T>G
ENST00000326266.12:c.700-33T>G ENSP00000326531.8:n.700-33T>G
ENST00000574549.5:c.628-33T>G ENSP00000458295.1:n.628-33T>G
ENST00000575576.5:c.628-33T>G ENSP00000460015.1:n.628-33T>G
NM_001142350.1:c.700-33T>G NP_001135822.1:n.700-33T>G
NM_024339.3:c.700-33T>G NP_077315.2:n.700-33T>G
NM_001142350.2:c.700-33T>G NP_001135822.1:n.700-33T>G
NM_001347703.1:c.628-33T>G NP_001334632.1:n.628-33T>G
NM_001347704.1:c.700-33T>G NP_001334633.1:n.700-33T>G
NM_024339.4:c.700-33T>G NP_077315.2:n.700-33T>G
NM_024339.5:c.700-33T>G MANE Select NP_077315.2:n.700-33T>G
NM_001142350.3:c.700-33T>G NP_001135822.1:n.700-33T>G
NM_001347703.2:c.628-33T>G NP_001334632.1:n.628-33T>G
NM_001347704.2:c.700-33T>G NP_001334633.1:n.700-33T>G