Canonical Allele Identifier: CA10619282
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.14707649C>T
GRCh37 chr5:g.14707758C>T
gnomAD v2:
5:14707758 C / T
gnomAD v3:
5:14707649 C / T
gnomAD v4:
chr5-14707649-C-T
Joint Max Group AF 0.00013489 (NFE)
Genomes Max Group AF 0.00013494 (NFE)
ClinVar Allele:
295811
ClinVar RCV:
RCV000283447
RCV000378027
ClinVar Variation:
351435
dbSNP:
539426552
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14707649C>T , CM000667.2:g.14707649C>T GRCh38
NC_000005.9:g.14707758C>T , CM000667.1:g.14707758C>T GRCh37
NC_000005.8:g.14760758C>T NCBI36
NG_008273.1:g.169130G>A
NG_008273.2:g.169137G>A
NG_051625.1:g.51856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.*3548G>A (ANKH) MANE Select ENSP00000284268.6:n.*3548G>A
ENST00000284268.6:c.*3548G>A (ANKH) ENSP00000284268.6:n.*3548G>A
NM_054027.4:c.*3548G>A (ANKH) NP_473368.1:n.*3548G>A
XM_011514151.1:c.*47-5073C>T (OTULIN) XP_011512453.1:n.*47-5073C>T
XM_011514152.1:c.*47-1289C>T (OTULIN) XP_011512454.1:n.*47-1289C>T
NM_054027.5:c.*3548G>A (ANKH) NP_473368.1:n.*3548G>A
XM_011514151.2:c.*47-5073C>T (OTULIN) XP_011512453.1:n.*47-5073C>T
XM_011514152.2:c.*47-1289C>T (OTULIN) XP_011512454.1:n.*47-1289C>T
NM_054027.6:c.*3548G>A (ANKH) MANE Select NP_473368.1:n.*3548G>A
Search 100 bp 5'
Search 100 bp 3'