Canonical Allele Identifier: CA507961301
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1230232115
gnomAD v2: 19-46269801-T-C
gnomAD v4: 19-45766543-T-C
MyVariant Identifiers: chr19:g.46269801T>C (hg19) chr19:g.45766543T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766543T>C , CM000681.2:g.45766543T>C GRCh38
NC_000019.9:g.46269801T>C , CM000681.1:g.46269801T>C GRCh37
NC_000019.8:g.50961641T>C NCBI36
NG_012745.1:g.7697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1416A>G MANE Select ENSP00000316842.4:p.Leu472=
ENST00000317578.6:c.1416A>G ENSP00000316842.4:p.Leu472=
ENST00000560160.1:c.587-432A>G
ENST00000560168.1:c.*604A>G ENSP00000453189.2:n.*604A>G
ENST00000622857.1:c.16-581A>G ENSP00000481365.1:n.16-581A>G
NM_175875.4:c.1416A>G NP_787071.2:p.Leu472=
NM_175875.5:c.1416A>G MANE Select NP_787071.3:p.Leu472=
Search 100 bp 5'
Search 100 bp 3'