Canonical Allele Identifier: CA385105939
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs2136376008
gnomAD v4: 12-53973887-T-A
MyVariant Identifiers: chr12:g.54367671T>A (hg19) chr12:g.53973887T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973887T>A , CM000674.2:g.53973887T>A GRCh38
NC_000012.11:g.54367671T>A , CM000674.1:g.54367671T>A GRCh37
NC_000012.10:g.52653938T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.646T>A (HOXC11) ENSP00000243082.4:p.Ser216Thr
ENST00000546378.1:c.646T>A (HOXC11) MANE Select ENSP00000446680.1:p.Ser216Thr
NM_014212.3:c.646T>A (HOXC11) NP_055027.1:p.Ser216Thr
NR_047517.1:n.59+1011A>T (HOTAIR)
NM_014212.4:c.646T>A (HOXC11) MANE Select NP_055027.1:p.Ser216Thr
Search 100 bp 5'
Search 100 bp 3'