Canonical Allele Identifier: CA1528875579
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706946A= , CM000667.2:g.14706946A= GRCh38
NC_000005.9:g.14707055A= , CM000667.1:g.14707055A= GRCh37
NC_000005.8:g.14760055A= NCBI36
NG_008273.1:g.169833T=
NG_008273.2:g.169840T=
NG_051625.1:g.51153A=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4251T= (ANKH) MANE Select ENSP00000284268.6:n.*4251T=
ENST00000284268.6:c.*4251T= (ANKH) ENSP00000284268.6:n.*4251T=
NM_054027.4:c.*4251T= (ANKH) NP_473368.1:n.*4251T=
XM_011514151.1:c.*47-5776A= (OTULIN) XP_011512453.1:n.*47-5776A=
XM_011514152.1:c.*47-1992A= (OTULIN) XP_011512454.1:n.*47-1992A=
NM_054027.5:c.*4251T= (ANKH) NP_473368.1:n.*4251T=
XM_011514151.2:c.*47-5776A= (OTULIN) XP_011512453.1:n.*47-5776A=
XM_011514152.2:c.*47-1992A= (OTULIN) XP_011512454.1:n.*47-1992A=
NM_054027.6:c.*4251T= (ANKH) MANE Select NP_473368.1:n.*4251T=
Search 100 bp 5'
Search 100 bp 3'