Canonical Allele Identifier: CA486814151
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

gnomAD v4: 14-60509899-G-A
MyVariant Identifiers: chr14:g.60976617G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509899G>A , CM000676.2:g.60509899G>A GRCh38
NC_000014.8:g.60976617G>A , CM000676.1:g.60976617G>A GRCh37
NC_000014.7:g.60046370G>A NCBI36
NG_008203.1:g.5680G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.501G>A (SIX6) MANE Select ENSP00000328596.5:p.Leu167=
ENST00000327720.5:c.501G>A (SIX6) ENSP00000328596.5:p.Leu167=
ENST00000556799.1:c.-144+5496C>T (C14orf39) ENSP00000451441.1:n.-144+5496C>T
NM_007374.2:c.501G>A (SIX6) NP_031400.2:p.Leu167=
NM_007374.3:c.501G>A (SIX6) MANE Select NP_031400.2:p.Leu167=
Search 100 bp 5'
Search 100 bp 3'