Canonical Allele Identifier: CA390087058
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

gnomAD v4: 14-60509798-T-C
MyVariant Identifiers: chr14:g.60976516T>C (hg19) chr14:g.60509798T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509798T>C , CM000676.2:g.60509798T>C GRCh38
NC_000014.8:g.60976516T>C , CM000676.1:g.60976516T>C GRCh37
NC_000014.7:g.60046269T>C NCBI36
NG_008203.1:g.5579T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.400T>C (SIX6) MANE Select ENSP00000328596.5:p.Cys134Arg
ENST00000327720.5:c.400T>C (SIX6) ENSP00000328596.5:p.Cys134Arg
ENST00000556799.1:c.-144+5597A>G (C14orf39) ENSP00000451441.1:n.-144+5597A>G
NM_007374.2:c.400T>C (SIX6) NP_031400.2:p.Cys134Arg
NM_007374.3:c.400T>C (SIX6) MANE Select NP_031400.2:p.Cys134Arg
Search 100 bp 5'
Search 100 bp 3'