Canonical Allele Identifier: CA262195816
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

dbSNP Id: rs905808214
gnomAD v4: 14-60509900-A-G
MyVariant Identifiers: chr14:g.60976618A>G (hg19) chr14:g.60509900A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509900A>G , CM000676.2:g.60509900A>G GRCh38
NC_000014.8:g.60976618A>G , CM000676.1:g.60976618A>G GRCh37
NC_000014.7:g.60046371A>G NCBI36
NG_008203.1:g.5681A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327720.6:c.502A>G (SIX6) MANE Select ENSP00000328596.5:p.Thr168Ala
ENST00000327720.5:c.502A>G (SIX6) ENSP00000328596.5:p.Thr168Ala
ENST00000556799.1:c.-144+5495T>C (C14orf39) ENSP00000451441.1:n.-144+5495T>C
NM_007374.2:c.502A>G (SIX6) NP_031400.2:p.Thr168Ala
NM_007374.3:c.502A>G (SIX6) MANE Select NP_031400.2:p.Thr168Ala
Search 100 bp 5'
Search 100 bp 3'