Canonical Allele Identifier: CA390086989
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

gnomAD v4: 14-60509777-G-A
MyVariant Identifiers: chr14:g.60976495G>A (hg19) chr14:g.60509777G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509777G>A , CM000676.2:g.60509777G>A GRCh38
NC_000014.8:g.60976495G>A , CM000676.1:g.60976495G>A GRCh37
NC_000014.7:g.60046248G>A NCBI36
NG_008203.1:g.5558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.379G>A (SIX6) MANE Select ENSP00000328596.5:p.Asp127Asn
ENST00000327720.5:c.379G>A (SIX6) ENSP00000328596.5:p.Asp127Asn
ENST00000556799.1:c.-144+5618C>T (C14orf39) ENSP00000451441.1:n.-144+5618C>T
NM_007374.2:c.379G>A (SIX6) NP_031400.2:p.Asp127Asn
NM_007374.3:c.379G>A (SIX6) MANE Select NP_031400.2:p.Asp127Asn
Search 100 bp 5'
Search 100 bp 3'