Canonical Allele Identifier: CA47011063
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs753469038
gnomAD v4: 2-44942875-G-A
MyVariant Identifiers: chr2:g.45170014G>A (hg19) chr2:g.44942875G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942875G>A , CM000664.2:g.44942875G>A GRCh38
NC_000002.11:g.45170014G>A , CM000664.1:g.45170014G>A GRCh37
NC_000002.10:g.45023518G>A NCBI36
NG_016222.1:g.5978G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.771G>A MANE Select ENSP00000260653.3:p.Arg257=
ENST00000260653.4:c.771G>A ENSP00000260653.3:p.Arg257=
NM_005413.3:c.771G>A NP_005404.1:p.Arg257=
XM_011533042.1:c.771G>A XP_011531344.1:p.Arg257=
NM_005413.4:c.771G>A MANE Select NP_005404.1:p.Arg257=
Search 100 bp 5'
Search 100 bp 3'