Canonical Allele Identifier: CA385106017
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs1299366408
gnomAD v2: 12-54367689-G-A
gnomAD v3: 12-53973905-G-A
gnomAD v4: 12-53973905-G-A
MyVariant Identifiers: chr12:g.54367689G>A (hg19) chr12:g.53973905G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973905G>A , CM000674.2:g.53973905G>A GRCh38
NC_000012.11:g.54367689G>A , CM000674.1:g.54367689G>A GRCh37
NC_000012.10:g.52653956G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.664G>A (HOXC11) ENSP00000243082.4:p.Ala222Thr
ENST00000546378.1:c.664G>A (HOXC11) MANE Select ENSP00000446680.1:p.Ala222Thr
NM_014212.3:c.664G>A (HOXC11) NP_055027.1:p.Ala222Thr
NR_047517.1:n.59+993C>T (HOTAIR)
NM_014212.4:c.664G>A (HOXC11) MANE Select NP_055027.1:p.Ala222Thr
Search 100 bp 5'
Search 100 bp 3'