Canonical Allele Identifier: CA9520717
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2961728
ClinVar RCV Id: RCV003822374
dbSNP Id: rs760494716
ExAC: 19:46270279 G / A
gnomAD v2: 19-46270279-G-A
gnomAD v4: 19-45767021-G-A
MyVariant Identifiers: chr19:g.46270279G>A (hg19) chr19:g.45767021G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767021G>A , CM000681.2:g.45767021G>A GRCh38
NC_000019.9:g.46270279G>A , CM000681.1:g.46270279G>A GRCh37
NC_000019.8:g.50962119G>A NCBI36
NG_012745.1:g.7219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.938C>T MANE Select ENSP00000316842.4:p.Ala313Val
ENST00000317578.6:c.938C>T ENSP00000316842.4:p.Ala313Val
ENST00000560160.1:c.587-910C>T
ENST00000560168.1:c.*126C>T ENSP00000453189.2:n.*126C>T
ENST00000622857.1:c.16-1059C>T ENSP00000481365.1:n.16-1059C>T
NM_175875.4:c.938C>T NP_787071.2:p.Ala313Val
NM_175875.5:c.938C>T MANE Select NP_787071.3:p.Ala313Val
Search 100 bp 5'
Search 100 bp 3'