Canonical Allele Identifier: CA507961189
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766468-C-T
MyVariant Identifiers: chr19:g.46269726C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766468C>T , CM000681.2:g.45766468C>T GRCh38
NC_000019.9:g.46269726C>T , CM000681.1:g.46269726C>T GRCh37
NC_000019.8:g.50961566C>T NCBI36
NG_012745.1:g.7772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1491G>A MANE Select ENSP00000316842.4:p.Leu497=
ENST00000317578.6:c.1491G>A ENSP00000316842.4:p.Leu497=
ENST00000560160.1:c.587-357G>A
ENST00000560168.1:c.*679G>A ENSP00000453189.2:n.*679G>A
ENST00000622857.1:c.16-506G>A ENSP00000481365.1:n.16-506G>A
NM_175875.4:c.1491G>A NP_787071.2:p.Leu497=
NM_175875.5:c.1491G>A MANE Select NP_787071.3:p.Leu497=
Search 100 bp 5'
Search 100 bp 3'