Canonical Allele Identifier: CA309001027
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1522665
ClinVar RCV Id: RCV002048725
dbSNP Id: rs1034926531
gnomAD v2: 19-46270304-A-C
gnomAD v3: 19-45767046-A-C
gnomAD v4: 19-45767046-A-C
MyVariant Identifiers: chr19:g.46270304A>C (hg19) chr19:g.45767046A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767046A>C , CM000681.2:g.45767046A>C GRCh38
NC_000019.9:g.46270304A>C , CM000681.1:g.46270304A>C GRCh37
NC_000019.8:g.50962144A>C NCBI36
NG_012745.1:g.7194T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.913T>G MANE Select ENSP00000316842.4:p.Phe305Val
ENST00000317578.6:c.913T>G ENSP00000316842.4:p.Phe305Val
ENST00000560160.1:c.587-935T>G
ENST00000560168.1:c.*101T>G ENSP00000453189.2:n.*101T>G
ENST00000622857.1:c.16-1084T>G ENSP00000481365.1:n.16-1084T>G
NM_175875.4:c.913T>G NP_787071.2:p.Phe305Val
NM_175875.5:c.913T>G MANE Select NP_787071.3:p.Phe305Val
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