Canonical Allele Identifier: CA345867049
Gene: SOX11 HGNC NCBI

Linked Data

gnomAD v4: 2-5693322-G-T
MyVariant Identifiers: chr2:g.5833454G>T (hg19) chr2:g.5693322G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5693322G>T , CM000664.2:g.5693322G>T GRCh38
NC_000002.11:g.5833454G>T , CM000664.1:g.5833454G>T GRCh37
NC_000002.10:g.5750905G>T NCBI36
NG_050751.1:g.5656G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322002.5:c.601G>T MANE Select ENSP00000322568.3:p.Gly201Cys
ENST00000322002.4:c.601G>T ENSP00000322568.3:p.Gly201Cys
NM_003108.3:c.601G>T NP_003099.1:p.Gly201Cys
NM_003108.4:c.601G>T MANE Select NP_003099.1:p.Gly201Cys
Search 100 bp 5'
Search 100 bp 3'