Canonical Allele Identifier: CA2575582723
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

gnomAD v4: 14-60510001-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60510001C>T , CM000676.2:g.60510001C>T GRCh38
NC_000014.8:g.60976719C>T , CM000676.1:g.60976719C>T GRCh37
NC_000014.7:g.60046472C>T NCBI36
NG_008203.1:g.5782C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.572+31C>T (SIX6) MANE Select ENSP00000328596.5:n.572+31C>T
ENST00000327720.5:c.572+31C>T (SIX6) ENSP00000328596.5:n.572+31C>T
ENST00000556799.1:c.-144+5394G>A (C14orf39) ENSP00000451441.1:n.-144+5394G>A
NM_007374.2:c.572+31C>T (SIX6) NP_031400.2:n.572+31C>T
NM_007374.3:c.572+31C>T (SIX6) MANE Select NP_031400.2:n.572+31C>T
Search 100 bp 5'
Search 100 bp 3'