Canonical Allele Identifier: CA346798913
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169361G>A (hg19) chr2:g.44942222G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942222G>A , CM000664.2:g.44942222G>A GRCh38
NC_000002.11:g.45169361G>A , CM000664.1:g.45169361G>A GRCh37
NC_000002.10:g.45022865G>A NCBI36
NG_016222.1:g.5325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.118G>A MANE Select ENSP00000260653.3:p.Gly40Ser
ENST00000260653.4:c.118G>A ENSP00000260653.3:p.Gly40Ser
NM_005413.3:c.118G>A NP_005404.1:p.Gly40Ser
XM_011533042.1:c.118G>A XP_011531344.1:p.Gly40Ser
NM_005413.4:c.118G>A MANE Select NP_005404.1:p.Gly40Ser
Search 100 bp 5'
Search 100 bp 3'