Canonical Allele Identifier: CA346800121
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169920T>G (hg19) chr2:g.44942781T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942781T>G , CM000664.2:g.44942781T>G GRCh38
NC_000002.11:g.45169920T>G , CM000664.1:g.45169920T>G GRCh37
NC_000002.10:g.45023424T>G NCBI36
NG_016222.1:g.5884T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.677T>G MANE Select ENSP00000260653.3:p.Leu226Arg
ENST00000260653.4:c.677T>G ENSP00000260653.3:p.Leu226Arg
NM_005413.3:c.677T>G NP_005404.1:p.Leu226Arg
XM_011533042.1:c.677T>G XP_011531344.1:p.Leu226Arg
NM_005413.4:c.677T>G MANE Select NP_005404.1:p.Leu226Arg
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