Canonical Allele Identifier: CA390087104
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474246
ClinVar RCV Id: RCV002005461
dbSNP Id: rs2140188072
MyVariant Identifiers: chr14:g.60976526A>C (hg19) chr14:g.60509808A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509808A>C , CM000676.2:g.60509808A>C GRCh38
NC_000014.8:g.60976526A>C , CM000676.1:g.60976526A>C GRCh37
NC_000014.7:g.60046279A>C NCBI36
NG_008203.1:g.5589A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.410A>C (SIX6) MANE Select ENSP00000328596.5:p.Glu137Ala
ENST00000327720.5:c.410A>C (SIX6) ENSP00000328596.5:p.Glu137Ala
ENST00000556799.1:c.-144+5587T>G (C14orf39) ENSP00000451441.1:n.-144+5587T>G
NM_007374.2:c.410A>C (SIX6) NP_031400.2:p.Glu137Ala
NM_007374.3:c.410A>C (SIX6) MANE Select NP_031400.2:p.Glu137Ala
Search 100 bp 5'
Search 100 bp 3'