Canonical Allele Identifier: CA346800359
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45170027C>G (hg19) chr2:g.44942888C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942888C>G , CM000664.2:g.44942888C>G GRCh38
NC_000002.11:g.45170027C>G , CM000664.1:g.45170027C>G GRCh37
NC_000002.10:g.45023531C>G NCBI36
NG_016222.1:g.5991C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.784C>G MANE Select ENSP00000260653.3:p.Arg262Gly
ENST00000260653.4:c.784C>G ENSP00000260653.3:p.Arg262Gly
NM_005413.3:c.784C>G NP_005404.1:p.Arg262Gly
XM_011533042.1:c.784C>G XP_011531344.1:p.Arg262Gly
NM_005413.4:c.784C>G MANE Select NP_005404.1:p.Arg262Gly
Search 100 bp 5'
Search 100 bp 3'