Canonical Allele Identifier: CA13687129
Gene: VDR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47895590C>T , CM000674.2:g.47895590C>T GRCh38
NC_000012.11:g.48289373C>T , CM000674.1:g.48289373C>T GRCh37
NC_000012.10:g.46575640C>T NCBI36
NG_008731.1:g.14442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-84+9365G>A MANE Select ENSP00000449573.2:n.-84+9365G>A
ENST00000229022.7:c.-84+4247G>A ENSP00000229022.3:n.-84+4247G>A
ENST00000395324.6:c.-83-12816G>A ENSP00000378734.2:n.-83-12816G>A
ENST00000546653.5:c.-3+4247G>A ENSP00000448659.1:n.-3+4247G>A
ENST00000547065.1:c.-3+9365G>A ENSP00000449074.1:n.-3+9365G>A
ENST00000548664.1:c.-84+4247G>A ENSP00000450105.1:n.-84+4247G>A
ENST00000549336.5:c.-84+9365G>A ENSP00000449573.1:n.-84+9365G>A
ENST00000550325.5:c.67+8974G>A ENSP00000447173.1:n.67+8974G>A
NM_000376.2:c.-84+9365G>A NP_000367.1:n.-84+9365G>A
NM_001017535.1:c.-84+4247G>A NP_001017535.1:n.-84+4247G>A
NM_001017536.1:c.67+8974G>A NP_001017536.1:n.67+8974G>A
XM_006719587.2:c.-3+9365G>A XP_006719650.1:n.-3+9365G>A
XM_011538720.1:c.-3+4247G>A XP_011537022.1:n.-3+4247G>A
NM_001364085.1:c.-84+9365G>A NP_001351014.1:n.-84+9365G>A
XM_006719587.3:c.-3+9365G>A XP_006719650.1:n.-3+9365G>A
XM_011538720.2:c.-3+4247G>A XP_011537022.1:n.-3+4247G>A
XM_024449178.1:c.67+8974G>A XP_024304946.1:n.67+8974G>A
NM_000376.3:c.-84+9365G>A MANE Select NP_000367.1:n.-84+9365G>A
NM_001017535.2:c.-84+4247G>A NP_001017535.1:n.-84+4247G>A
NM_001017536.2:c.67+8974G>A NP_001017536.1:n.67+8974G>A
NM_001364085.2:c.-84+9365G>A NP_001351014.1:n.-84+9365G>A
NM_001374661.1:c.-3+4247G>A NP_001361590.1:n.-3+4247G>A
NM_001374662.1:c.-3+9365G>A NP_001361591.1:n.-3+9365G>A
Search 100 bp 5'
Search 100 bp 3'