Canonical Allele Identifier: CA345866035
Gene: SOX11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.5832998A>C (hg19) chr2:g.5692866A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692866A>C , CM000664.2:g.5692866A>C GRCh38
NC_000002.11:g.5832998A>C , CM000664.1:g.5832998A>C GRCh37
NC_000002.10:g.5750449A>C NCBI36
NG_050751.1:g.5200A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.145A>C MANE Select ENSP00000322568.3:p.Ile49Leu
ENST00000322002.4:c.145A>C ENSP00000322568.3:p.Ile49Leu
NM_003108.3:c.145A>C NP_003099.1:p.Ile49Leu
NM_003108.4:c.145A>C MANE Select NP_003099.1:p.Ile49Leu
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