Canonical Allele Identifier: CA486814145
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.60976611C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509893C>A , CM000676.2:g.60509893C>A GRCh38
NC_000014.8:g.60976611C>A , CM000676.1:g.60976611C>A GRCh37
NC_000014.7:g.60046364C>A NCBI36
NG_008203.1:g.5674C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.495C>A (SIX6) MANE Select ENSP00000328596.5:p.Thr165=
ENST00000327720.5:c.495C>A (SIX6) ENSP00000328596.5:p.Thr165=
ENST00000556799.1:c.-144+5502G>T (C14orf39) ENSP00000451441.1:n.-144+5502G>T
NM_007374.2:c.495C>A (SIX6) NP_031400.2:p.Thr165=
NM_007374.3:c.495C>A (SIX6) MANE Select NP_031400.2:p.Thr165=