Canonical Allele Identifier: CA406417473
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766413-C-G
MyVariant Identifiers: chr19:g.46269671C>G (hg19) chr19:g.45766413C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766413C>G , CM000681.2:g.45766413C>G GRCh38
NC_000019.9:g.46269671C>G , CM000681.1:g.46269671C>G GRCh37
NC_000019.8:g.50961511C>G NCBI36
NG_012745.1:g.7827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1546G>C MANE Select ENSP00000316842.4:p.Val516Leu
ENST00000317578.6:c.1546G>C ENSP00000316842.4:p.Val516Leu
ENST00000560160.1:c.587-302G>C
ENST00000560168.1:c.*734G>C ENSP00000453189.2:n.*734G>C
ENST00000622857.1:c.16-451G>C ENSP00000481365.1:n.16-451G>C
NM_175875.4:c.1546G>C NP_787071.2:p.Val516Leu
NM_175875.5:c.1546G>C MANE Select NP_787071.3:p.Val516Leu
Search 100 bp 5'
Search 100 bp 3'