Canonical Allele Identifier: CA406418026
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3001394
ClinVar RCV Id: RCV003852537
dbSNP Id: rs1278502020
gnomAD v4: 19-45766532-G-A
MyVariant Identifiers: chr19:g.46269790G>A (hg19) chr19:g.45766532G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766532G>A , CM000681.2:g.45766532G>A GRCh38
NC_000019.9:g.46269790G>A , CM000681.1:g.46269790G>A GRCh37
NC_000019.8:g.50961630G>A NCBI36
NG_012745.1:g.7708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1427C>T MANE Select ENSP00000316842.4:p.Pro476Leu
ENST00000317578.6:c.1427C>T ENSP00000316842.4:p.Pro476Leu
ENST00000560160.1:c.587-421C>T
ENST00000560168.1:c.*615C>T ENSP00000453189.2:n.*615C>T
ENST00000622857.1:c.16-570C>T ENSP00000481365.1:n.16-570C>T
NM_175875.4:c.1427C>T NP_787071.2:p.Pro476Leu
NM_175875.5:c.1427C>T MANE Select NP_787071.3:p.Pro476Leu
Search 100 bp 5'
Search 100 bp 3'