Canonical Allele Identifier: CA507833918
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2975075
ClinVar RCV Id: RCV003830681
gnomAD v4: 19-45767053-G-A
MyVariant Identifiers: chr19:g.46270311G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767053G>A , CM000681.2:g.45767053G>A GRCh38
NC_000019.9:g.46270311G>A , CM000681.1:g.46270311G>A GRCh37
NC_000019.8:g.50962151G>A NCBI36
NG_012745.1:g.7187C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.906C>T MANE Select ENSP00000316842.4:p.Gly302=
ENST00000317578.6:c.906C>T ENSP00000316842.4:p.Gly302=
ENST00000560160.1:c.587-942C>T
ENST00000560168.1:c.*94C>T ENSP00000453189.2:n.*94C>T
ENST00000622857.1:c.16-1091C>T ENSP00000481365.1:n.16-1091C>T
NM_175875.4:c.906C>T NP_787071.2:p.Gly302=
NM_175875.5:c.906C>T MANE Select NP_787071.3:p.Gly302=
Search 100 bp 5'
Search 100 bp 3'