Canonical Allele Identifier: CA2592615781
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

gnomAD v3: 5-14706889-G-A
gnomAD v4: 5-14706889-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706889G>A , CM000667.2:g.14706889G>A GRCh38
NC_000005.9:g.14706998G>A , CM000667.1:g.14706998G>A GRCh37
NC_000005.8:g.14759998G>A NCBI36
NG_008273.1:g.169890C>T
NG_008273.2:g.169897C>T
NG_051625.1:g.51096G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4308C>T (ANKH) MANE Select ENSP00000284268.6:n.*4308C>T
ENST00000284268.6:c.*4308C>T (ANKH) ENSP00000284268.6:n.*4308C>T
NM_054027.4:c.*4308C>T (ANKH) NP_473368.1:n.*4308C>T
XM_011514151.1:c.*47-5833G>A (OTULIN) XP_011512453.1:n.*47-5833G>A
XM_011514152.1:c.*47-2049G>A (OTULIN) XP_011512454.1:n.*47-2049G>A
NM_054027.5:c.*4308C>T (ANKH) NP_473368.1:n.*4308C>T
XM_011514151.2:c.*47-5833G>A (OTULIN) XP_011512453.1:n.*47-5833G>A
XM_011514152.2:c.*47-2049G>A (OTULIN) XP_011512454.1:n.*47-2049G>A
NM_054027.6:c.*4308C>T (ANKH) MANE Select NP_473368.1:n.*4308C>T
Search 100 bp 5'
Search 100 bp 3'