Canonical Allele Identifier: CA390087383
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.60976597C>G (hg19) chr14:g.60509879C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509879C>G , CM000676.2:g.60509879C>G GRCh38
NC_000014.8:g.60976597C>G , CM000676.1:g.60976597C>G GRCh37
NC_000014.7:g.60046350C>G NCBI36
NG_008203.1:g.5660C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.481C>G (SIX6) MANE Select ENSP00000328596.5:p.Leu161Val
ENST00000327720.5:c.481C>G (SIX6) ENSP00000328596.5:p.Leu161Val
ENST00000556799.1:c.-144+5516G>C (C14orf39) ENSP00000451441.1:n.-144+5516G>C
NM_007374.2:c.481C>G (SIX6) NP_031400.2:p.Leu161Val
NM_007374.3:c.481C>G (SIX6) MANE Select NP_031400.2:p.Leu161Val
Search 100 bp 5'
Search 100 bp 3'