Canonical Allele Identifier: CA7160639
Gene: TTC6 HGNC NCBI

Linked Data

dbSNP Id: rs12896790
ExAC: 14:38273922 T / G
gnomAD v2: 14-38273922-T-G
gnomAD v3: 14-37804717-T-G
gnomAD v4: 14-37804717-T-G
MyVariant Identifiers: chr14:g.38273922T>G (hg19) chr14:g.37804717T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.37804717T>G , CM000676.2:g.37804717T>G GRCh38
NC_000014.8:g.38273922T>G , CM000676.1:g.38273922T>G GRCh37
NC_000014.7:g.37343673T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000553443.6:c.4067T>G MANE Select ENSP00000451131.1:p.Ile1356Ser
ENST00000267368.11:c.260T>G ENSP00000267368.7:p.Ile87Ser
ENST00000382320.4:c.209T>G ENSP00000371757.4:p.Ile70Ser
ENST00000476979.5:c.260T>G ENSP00000417788.1:p.Ile87Ser
ENST00000478811.6:c.260T>G ENSP00000419204.2:p.Ile87Ser
ENST00000533625.5:c.*1062+65562T>G ENSP00000451566.1:n.*1062+65562T>G
ENST00000553443.5:c.4067T>G ENSP00000451131.1:p.Ile1356Ser
NM_001310135.1:c.4115T>G NP_001297064.1:p.Ile1372Ser
XM_011537430.1:c.2672T>G XP_011535732.1:p.Ile891Ser
XM_011537431.1:c.2354T>G XP_011535733.1:p.Ile785Ser
XR_943762.1:n.4972T>G
XM_011537430.2:c.2672T>G XP_011535732.1:p.Ile891Ser
XM_011537431.2:c.2354T>G XP_011535733.1:p.Ile785Ser
XM_017021254.1:c.4115T>G XP_016876743.1:p.Ile1372Ser
XM_017021255.1:c.4078-2603T>G XP_016876744.1:n.4078-2603T>G
XM_017021256.1:c.3116T>G XP_016876745.1:p.Ile1039Ser
XM_024449560.1:c.4115T>G XP_024305328.1:p.Ile1372Ser
XR_943762.2:n.4972T>G
NM_001310135.2:c.4115T>G NP_001297064.1:p.Ile1372Ser
NM_001368142.1:c.260T>G NP_001355071.1:p.Ile87Ser
NM_001310135.3:c.4115T>G NP_001297064.1:p.Ile1372Ser
NM_001368142.2:c.260T>G NP_001355071.1:p.Ile87Ser
NM_001310135.5:c.4067T>G MANE Select NP_001297064.2:p.Ile1356Ser
Search 100 bp 5'
Search 100 bp 3'