Canonical Allele Identifier: CA346798772
Gene: SIX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.45169291G>C (hg19) chr2:g.44942152G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942152G>C , CM000664.2:g.44942152G>C GRCh38
NC_000002.11:g.45169291G>C , CM000664.1:g.45169291G>C GRCh37
NC_000002.10:g.45022795G>C NCBI36
NG_016222.1:g.5255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.48G>C MANE Select ENSP00000260653.3:p.Leu16Phe
ENST00000260653.4:c.48G>C ENSP00000260653.3:p.Leu16Phe
NM_005413.3:c.48G>C NP_005404.1:p.Leu16Phe
XM_011533042.1:c.48G>C XP_011531344.1:p.Leu16Phe
NM_005413.4:c.48G>C MANE Select NP_005404.1:p.Leu16Phe
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