Canonical Allele Identifier: CA2591248425

Gene: TTC6

Linked Data

• dbSNP Id: rs2139237632
• gnomAD v3: 14-37607754-G-A
• gnomAD v4: 14-37607754-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.37607754G>A , CM000676.2:g.37607754G>A	GRCh38
NC_000014.8:g.38076959G>A , CM000676.1:g.38076959G>A	GRCh37
NC_000014.7:g.37146710G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553443.6:c.-16+1012G>A MANE Select	ENSP00000451131.1:n.-16+1012G>A
ENST00000556845.1:c.-155+1012G>A	ENSP00000450572.1:n.-155+1012G>A
NM_001310135.1:c.33+1012G>A	NP_001297064.1:n.33+1012G>A
XM_011537432.1:c.33+1012G>A	XP_011535734.1:n.33+1012G>A
XR_943762.1:n.890+1012G>A
XM_011537432.2:c.33+1012G>A	XP_011535734.1:n.33+1012G>A
XM_017021254.1:c.33+1012G>A	XP_016876743.1:n.33+1012G>A
XM_017021255.1:c.33+1012G>A	XP_016876744.1:n.33+1012G>A
XM_017021257.1:c.33+1012G>A	XP_016876746.1:n.33+1012G>A
XM_024449560.1:c.33+1012G>A	XP_024305328.1:n.33+1012G>A
XR_001750287.1:n.890+1012G>A
XR_943762.2:n.890+1012G>A
NM_001310135.2:c.33+1012G>A	NP_001297064.1:n.33+1012G>A
NM_001310135.3:c.33+1012G>A	NP_001297064.1:n.33+1012G>A
NM_001310135.5:c.-16+1012G>A MANE Select	NP_001297064.2:n.-16+1012G>A