Canonical Allele Identifier: CA114714441
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.14709443C>T
GRCh37 chr5:g.14709552C>T
gnomAD v2:
5:14709552 C / T
gnomAD v3:
5:14709443 C / T
gnomAD v4:
chr5-14709443-C-T
Joint Max Group AF 0.00012396 (NFE)
Genomes Max Group AF 0.00012398 (NFE)
ClinVar Allele:
893243
ClinVar RCV:
RCV001151165
RCV001151166
ClinVar Variation:
903686
dbSNP:
971385670
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14709443C>T , CM000667.2:g.14709443C>T GRCh38
NC_000005.9:g.14709552C>T , CM000667.1:g.14709552C>T GRCh37
NC_000005.8:g.14762552C>T NCBI36
NG_008273.1:g.167336G>A
NG_008273.2:g.167343G>A
NG_051625.1:g.53650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.*1754G>A (ANKH) MANE Select ENSP00000284268.6:n.*1754G>A
ENST00000284268.6:c.*1754G>A (ANKH) ENSP00000284268.6:n.*1754G>A
NM_054027.4:c.*1754G>A (ANKH) NP_473368.1:n.*1754G>A
XM_011514151.1:c.*47-3279C>T (OTULIN) XP_011512453.1:n.*47-3279C>T
NM_054027.5:c.*1754G>A (ANKH) NP_473368.1:n.*1754G>A
XM_011514151.2:c.*47-3279C>T (OTULIN) XP_011512453.1:n.*47-3279C>T
NM_054027.6:c.*1754G>A (ANKH) MANE Select NP_473368.1:n.*1754G>A
Search 100 bp 5'
Search 100 bp 3'