Canonical Allele Identifier: CA406417797
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46269737G>C (hg19) chr19:g.45766479G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766479G>C , CM000681.2:g.45766479G>C GRCh38
NC_000019.9:g.46269737G>C , CM000681.1:g.46269737G>C GRCh37
NC_000019.8:g.50961577G>C NCBI36
NG_012745.1:g.7761C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1480C>G MANE Select ENSP00000316842.4:p.Leu494Val
ENST00000317578.6:c.1480C>G ENSP00000316842.4:p.Leu494Val
ENST00000560160.1:c.587-368C>G
ENST00000560168.1:c.*668C>G ENSP00000453189.2:n.*668C>G
ENST00000622857.1:c.16-517C>G ENSP00000481365.1:n.16-517C>G
NM_175875.4:c.1480C>G NP_787071.2:p.Leu494Val
NM_175875.5:c.1480C>G MANE Select NP_787071.3:p.Leu494Val
Search 100 bp 5'
Search 100 bp 3'