Canonical Allele Identifier: CA406418834
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766710-G-C
MyVariant Identifiers: chr19:g.46269968G>C (hg19) chr19:g.45766710G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766710G>C , CM000681.2:g.45766710G>C GRCh38
NC_000019.9:g.46269968G>C , CM000681.1:g.46269968G>C GRCh37
NC_000019.8:g.50961808G>C NCBI36
NG_012745.1:g.7530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1249C>G MANE Select ENSP00000316842.4:p.Leu417Val
ENST00000317578.6:c.1249C>G ENSP00000316842.4:p.Leu417Val
ENST00000560160.1:c.587-599C>G
ENST00000560168.1:c.*437C>G ENSP00000453189.2:n.*437C>G
ENST00000622857.1:c.16-748C>G ENSP00000481365.1:n.16-748C>G
NM_175875.4:c.1249C>G NP_787071.2:p.Leu417Val
NM_175875.5:c.1249C>G MANE Select NP_787071.3:p.Leu417Val
Search 100 bp 5'
Search 100 bp 3'