Canonical Allele Identifier: CA346798804
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942167-T-A
MyVariant Identifiers: chr2:g.45169306T>A (hg19) chr2:g.44942167T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942167T>A , CM000664.2:g.44942167T>A GRCh38
NC_000002.11:g.45169306T>A , CM000664.1:g.45169306T>A GRCh37
NC_000002.10:g.45022810T>A NCBI36
NG_016222.1:g.5270T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.63T>A MANE Select ENSP00000260653.3:p.Asp21Glu
ENST00000260653.4:c.63T>A ENSP00000260653.3:p.Asp21Glu
NM_005413.3:c.63T>A NP_005404.1:p.Asp21Glu
XM_011533042.1:c.63T>A XP_011531344.1:p.Asp21Glu
NM_005413.4:c.63T>A MANE Select NP_005404.1:p.Asp21Glu
Search 100 bp 5'
Search 100 bp 3'