Canonical Allele Identifier: CA406420638
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766964-C-T
MyVariant Identifiers: chr19:g.46270222C>T (hg19) chr19:g.45766964C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766964C>T , CM000681.2:g.45766964C>T GRCh38
NC_000019.9:g.46270222C>T , CM000681.1:g.46270222C>T GRCh37
NC_000019.8:g.50962062C>T NCBI36
NG_012745.1:g.7276G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.995G>A MANE Select ENSP00000316842.4:p.Gly332Asp
ENST00000317578.6:c.995G>A ENSP00000316842.4:p.Gly332Asp
ENST00000560160.1:c.587-853G>A
ENST00000560168.1:c.*183G>A ENSP00000453189.2:n.*183G>A
ENST00000622857.1:c.16-1002G>A ENSP00000481365.1:n.16-1002G>A
NM_175875.4:c.995G>A NP_787071.2:p.Gly332Asp
NM_175875.5:c.995G>A MANE Select NP_787071.3:p.Gly332Asp
Search 100 bp 5'
Search 100 bp 3'