Canonical Allele Identifier: CA259476578

Gene: TTC6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.37607984C>G , CM000676.2:g.37607984C>G	GRCh38
NC_000014.8:g.38077189C>G , CM000676.1:g.38077189C>G	GRCh37
NC_000014.7:g.37146940C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001310135.5:c.-16+1242C>G MANE Select	NP_001297064.2:n.-16+1242C>G
ENST00000553443.6:c.-16+1242C>G MANE Select	ENSP00000451131.1:n.-16+1242C>G
NM_001310135.1:c.33+1242C>G	NP_001297064.1:n.33+1242C>G
NM_001310135.2:c.33+1242C>G	NP_001297064.1:n.33+1242C>G
NM_001310135.3:c.33+1242C>G	NP_001297064.1:n.33+1242C>G
ENST00000556845.1:c.-155+1242C>G	ENSP00000450572.1:n.-155+1242C>G
XM_011537432.1:c.33+1242C>G	XP_011535734.1:n.33+1242C>G
XM_011537432.2:c.33+1242C>G	XP_011535734.1:n.33+1242C>G
XM_017021254.1:c.33+1242C>G	XP_016876743.1:n.33+1242C>G
XM_017021255.1:c.33+1242C>G	XP_016876744.1:n.33+1242C>G
XM_017021257.1:c.33+1242C>G	XP_016876746.1:n.33+1242C>G
XM_024449560.1:c.33+1242C>G	XP_024305328.1:n.33+1242C>G
XR_001750287.1:n.890+1242C>G
XR_943762.1:n.890+1242C>G
XR_943762.2:n.890+1242C>G