Canonical Allele Identifier: CA345866162
Gene: SOX11 HGNC NCBI

Linked Data

gnomAD v4: 2-5692919-G-T
MyVariant Identifiers: chr2:g.5833051G>T (hg19) chr2:g.5692919G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692919G>T , CM000664.2:g.5692919G>T GRCh38
NC_000002.11:g.5833051G>T , CM000664.1:g.5833051G>T GRCh37
NC_000002.10:g.5750502G>T NCBI36
NG_050751.1:g.5253G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.198G>T MANE Select ENSP00000322568.3:p.Lys66Asn
ENST00000322002.4:c.198G>T ENSP00000322568.3:p.Lys66Asn
NM_003108.3:c.198G>T NP_003099.1:p.Lys66Asn
NM_003108.4:c.198G>T MANE Select NP_003099.1:p.Lys66Asn
Search 100 bp 5'
Search 100 bp 3'