Canonical Allele Identifier: CA390087049
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

dbSNP Id: rs1893262649
gnomAD v3: 14-60509796-A-C
gnomAD v4: 14-60509796-A-C
MyVariant Identifiers: chr14:g.60976514A>C (hg19) chr14:g.60509796A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509796A>C , CM000676.2:g.60509796A>C GRCh38
NC_000014.8:g.60976514A>C , CM000676.1:g.60976514A>C GRCh37
NC_000014.7:g.60046267A>C NCBI36
NG_008203.1:g.5577A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.398A>C (SIX6) MANE Select ENSP00000328596.5:p.His133Pro
ENST00000327720.5:c.398A>C (SIX6) ENSP00000328596.5:p.His133Pro
ENST00000556799.1:c.-144+5599T>G (C14orf39) ENSP00000451441.1:n.-144+5599T>G
NM_007374.2:c.398A>C (SIX6) NP_031400.2:p.His133Pro
NM_007374.3:c.398A>C (SIX6) MANE Select NP_031400.2:p.His133Pro
Search 100 bp 5'
Search 100 bp 3'