Canonical Allele Identifier: CA385105251
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs1939193712
gnomAD v4: 12-53973756-C-T
MyVariant Identifiers: chr12:g.54367540C>T (hg19) chr12:g.53973756C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973756C>T , CM000674.2:g.53973756C>T GRCh38
NC_000012.11:g.54367540C>T , CM000674.1:g.54367540C>T GRCh37
NC_000012.10:g.52653807C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.515C>T (HOXC11) ENSP00000243082.4:p.Ser172Phe
ENST00000546378.1:c.515C>T (HOXC11) MANE Select ENSP00000446680.1:p.Ser172Phe
NM_014212.3:c.515C>T (HOXC11) NP_055027.1:p.Ser172Phe
NR_047517.1:n.59+1142G>A (HOTAIR)
NM_014212.4:c.515C>T (HOXC11) MANE Select NP_055027.1:p.Ser172Phe
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