Canonical Allele Identifier: CA507833899
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270284A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767026A>G , CM000681.2:g.45767026A>G GRCh38
NC_000019.9:g.46270284A>G , CM000681.1:g.46270284A>G GRCh37
NC_000019.8:g.50962124A>G NCBI36
NG_012745.1:g.7214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.933T>C MANE Select ENSP00000316842.4:p.Pro311=
ENST00000317578.6:c.933T>C ENSP00000316842.4:p.Pro311=
ENST00000560160.1:c.587-915T>C
ENST00000560168.1:c.*121T>C ENSP00000453189.2:n.*121T>C
ENST00000622857.1:c.16-1064T>C ENSP00000481365.1:n.16-1064T>C
NM_175875.4:c.933T>C NP_787071.2:p.Pro311=
NM_175875.5:c.933T>C MANE Select NP_787071.3:p.Pro311=