Canonical Allele Identifier: CA390087443
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.60976616T>G (hg19) chr14:g.60509898T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509898T>G , CM000676.2:g.60509898T>G GRCh38
NC_000014.8:g.60976616T>G , CM000676.1:g.60976616T>G GRCh37
NC_000014.7:g.60046369T>G NCBI36
NG_008203.1:g.5679T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.500T>G (SIX6) MANE Select ENSP00000328596.5:p.Leu167Arg
ENST00000327720.5:c.500T>G (SIX6) ENSP00000328596.5:p.Leu167Arg
ENST00000556799.1:c.-144+5497A>C (C14orf39) ENSP00000451441.1:n.-144+5497A>C
NM_007374.2:c.500T>G (SIX6) NP_031400.2:p.Leu167Arg
NM_007374.3:c.500T>G (SIX6) MANE Select NP_031400.2:p.Leu167Arg
Search 100 bp 5'
Search 100 bp 3'