Canonical Allele Identifier: CA507961949
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1264249125
gnomAD v2: 19-46270146-G-C
gnomAD v4: 19-45766888-G-C
MyVariant Identifiers: chr19:g.46270146G>C (hg19) chr19:g.45766888G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766888G>C , CM000681.2:g.45766888G>C GRCh38
NC_000019.9:g.46270146G>C , CM000681.1:g.46270146G>C GRCh37
NC_000019.8:g.50961986G>C NCBI36
NG_012745.1:g.7352C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1071C>G MANE Select ENSP00000316842.4:p.Gly357=
ENST00000317578.6:c.1071C>G ENSP00000316842.4:p.Gly357=
ENST00000560160.1:c.587-777C>G
ENST00000560168.1:c.*259C>G ENSP00000453189.2:n.*259C>G
ENST00000622857.1:c.16-926C>G ENSP00000481365.1:n.16-926C>G
NM_175875.4:c.1071C>G NP_787071.2:p.Gly357=
NM_175875.5:c.1071C>G MANE Select NP_787071.3:p.Gly357=
Search 100 bp 5'
Search 100 bp 3'