Canonical Allele Identifier: CA346798693
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169252C>A (hg19) chr2:g.44942113C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942113C>A , CM000664.2:g.44942113C>A GRCh38
NC_000002.11:g.45169252C>A , CM000664.1:g.45169252C>A GRCh37
NC_000002.10:g.45022756C>A NCBI36
NG_016222.1:g.5216C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.9C>A MANE Select ENSP00000260653.3:p.Phe3Leu
ENST00000260653.4:c.9C>A ENSP00000260653.3:p.Phe3Leu
NM_005413.3:c.9C>A NP_005404.1:p.Phe3Leu
XM_011533042.1:c.9C>A XP_011531344.1:p.Phe3Leu
NM_005413.4:c.9C>A MANE Select NP_005404.1:p.Phe3Leu
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