Canonical Allele Identifier: CA390087355
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2621506
ClinVar RCV Id: RCV004360238
MyVariant Identifiers: chr14:g.60976591C>A (hg19) chr14:g.60509873C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509873C>A , CM000676.2:g.60509873C>A GRCh38
NC_000014.8:g.60976591C>A , CM000676.1:g.60976591C>A GRCh37
NC_000014.7:g.60046344C>A NCBI36
NG_008203.1:g.5654C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.475C>A (SIX6) MANE Select ENSP00000328596.5:p.Arg159Ser
ENST00000327720.5:c.475C>A (SIX6) ENSP00000328596.5:p.Arg159Ser
ENST00000556799.1:c.-144+5522G>T (C14orf39) ENSP00000451441.1:n.-144+5522G>T
NM_007374.2:c.475C>A (SIX6) NP_031400.2:p.Arg159Ser
NM_007374.3:c.475C>A (SIX6) MANE Select NP_031400.2:p.Arg159Ser
Search 100 bp 5'
Search 100 bp 3'