Canonical Allele Identifier: CA7212600
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

dbSNP Id: rs758603385
ExAC: 14:60976611 C / T
gnomAD v2: 14-60976611-C-T
gnomAD v4: 14-60509893-C-T
COSMIC: COSM1370357
MyVariant Identifiers: chr14:g.60976611C>T (hg19) chr14:g.60509893C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.495C>T (SIX6) MANE Select ENSP00000328596.5:p.Thr165=
ENST00000327720.5:c.495C>T (SIX6) ENSP00000328596.5:p.Thr165=
ENST00000556799.1:c.-144+5502G>A (C14orf39) ENSP00000451441.1:n.-144+5502G>A
NM_007374.2:c.495C>T (SIX6) NP_031400.2:p.Thr165=
NM_007374.3:c.495C>T (SIX6) MANE Select NP_031400.2:p.Thr165=
Search 100 bp 5'
Search 100 bp 3'