Canonical Allele Identifier: CA406419309
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766817-T-C
MyVariant Identifiers: chr19:g.46270075T>C (hg19) chr19:g.45766817T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766817T>C , CM000681.2:g.45766817T>C GRCh38
NC_000019.9:g.46270075T>C , CM000681.1:g.46270075T>C GRCh37
NC_000019.8:g.50961915T>C NCBI36
NG_012745.1:g.7423A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1142A>G MANE Select ENSP00000316842.4:p.Lys381Arg
ENST00000317578.6:c.1142A>G ENSP00000316842.4:p.Lys381Arg
ENST00000560160.1:c.587-706A>G
ENST00000560168.1:c.*330A>G ENSP00000453189.2:n.*330A>G
ENST00000622857.1:c.16-855A>G ENSP00000481365.1:n.16-855A>G
NM_175875.4:c.1142A>G NP_787071.2:p.Lys381Arg
NM_175875.5:c.1142A>G MANE Select NP_787071.3:p.Lys381Arg
Search 100 bp 5'
Search 100 bp 3'