Canonical Allele Identifier: CA346798688
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169250T>C (hg19) chr2:g.44942111T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942111T>C , CM000664.2:g.44942111T>C GRCh38
NC_000002.11:g.45169250T>C , CM000664.1:g.45169250T>C GRCh37
NC_000002.10:g.45022754T>C NCBI36
NG_016222.1:g.5214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.7T>C MANE Select ENSP00000260653.3:p.Phe3Leu
ENST00000260653.4:c.7T>C ENSP00000260653.3:p.Phe3Leu
NM_005413.3:c.7T>C NP_005404.1:p.Phe3Leu
XM_011533042.1:c.7T>C XP_011531344.1:p.Phe3Leu
NM_005413.4:c.7T>C MANE Select NP_005404.1:p.Phe3Leu
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