Canonical Allele Identifier: CA9520658
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs554847654
ExAC: 19:46270031 C / T
gnomAD v2: 19-46270031-C-T
gnomAD v3: 19-45766773-C-T
gnomAD v4: 19-45766773-C-T
MyVariant Identifiers: chr19:g.46270031C>T (hg19) chr19:g.45766773C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766773C>T , CM000681.2:g.45766773C>T GRCh38
NC_000019.9:g.46270031C>T , CM000681.1:g.46270031C>T GRCh37
NC_000019.8:g.50961871C>T NCBI36
NG_012745.1:g.7467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1186G>A MANE Select ENSP00000316842.4:p.Glu396Lys
ENST00000317578.6:c.1186G>A ENSP00000316842.4:p.Glu396Lys
ENST00000560160.1:c.587-662G>A
ENST00000560168.1:c.*374G>A ENSP00000453189.2:n.*374G>A
ENST00000622857.1:c.16-811G>A ENSP00000481365.1:n.16-811G>A
NM_175875.4:c.1186G>A NP_787071.2:p.Glu396Lys
NM_175875.5:c.1186G>A MANE Select NP_787071.3:p.Glu396Lys
Search 100 bp 5'
Search 100 bp 3'