Canonical Allele Identifier: CA2338594292
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766505A= , CM000681.2:g.45766505A= GRCh38
NC_000019.9:g.46269763A= , CM000681.1:g.46269763A= GRCh37
NC_000019.8:g.50961603A= NCBI36
NG_012745.1:g.7735T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1454T= MANE Select ENSP00000316842.4:p.Val485=
ENST00000317578.6:c.1454T= ENSP00000316842.4:p.Val485=
ENST00000560160.1:c.587-394T=
ENST00000560168.1:c.*642T= ENSP00000453189.2:n.*642T=
ENST00000622857.1:c.16-543T= ENSP00000481365.1:n.16-543T=
NM_175875.4:c.1454T= NP_787071.2:p.Val485=
NM_175875.5:c.1454T= MANE Select NP_787071.3:p.Val485=
Search 100 bp 5'
Search 100 bp 3'