Canonical Allele Identifier: CA406418124
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs372239517
MyVariant Identifiers: chr19:g.46269817C>A (hg19) chr19:g.45766559C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766559C>A , CM000681.2:g.45766559C>A GRCh38
NC_000019.9:g.46269817C>A , CM000681.1:g.46269817C>A GRCh37
NC_000019.8:g.50961657C>A NCBI36
NG_012745.1:g.7681G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1400G>T MANE Select ENSP00000316842.4:p.Ser467Ile
ENST00000317578.6:c.1400G>T ENSP00000316842.4:p.Ser467Ile
ENST00000560160.1:c.587-448G>T
ENST00000560168.1:c.*588G>T ENSP00000453189.2:n.*588G>T
ENST00000622857.1:c.16-597G>T ENSP00000481365.1:n.16-597G>T
NM_175875.4:c.1400G>T NP_787071.2:p.Ser467Ile
NM_175875.5:c.1400G>T MANE Select NP_787071.3:p.Ser467Ile
Search 100 bp 5'
Search 100 bp 3'