Canonical Allele Identifier: CA390087438
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.60976615C>G (hg19) chr14:g.60509897C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509897C>G , CM000676.2:g.60509897C>G GRCh38
NC_000014.8:g.60976615C>G , CM000676.1:g.60976615C>G GRCh37
NC_000014.7:g.60046368C>G NCBI36
NG_008203.1:g.5678C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.499C>G (SIX6) MANE Select ENSP00000328596.5:p.Leu167Val
ENST00000327720.5:c.499C>G (SIX6) ENSP00000328596.5:p.Leu167Val
ENST00000556799.1:c.-144+5498G>C (C14orf39) ENSP00000451441.1:n.-144+5498G>C
NM_007374.2:c.499C>G (SIX6) NP_031400.2:p.Leu167Val
NM_007374.3:c.499C>G (SIX6) MANE Select NP_031400.2:p.Leu167Val
Search 100 bp 5'
Search 100 bp 3'