Canonical Allele Identifier: CA1528880531
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716243T= , CM000667.2:g.14716243T= GRCh38
NC_000005.9:g.14716352T= , CM000667.1:g.14716352T= GRCh37
NC_000005.8:g.14769352T= NCBI36
NG_008273.1:g.160536A=
NG_008273.2:g.160543A=
NG_051625.1:g.60450T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+463A= (ANKH) MANE Select ENSP00000284268.6:n.1141+463A=
ENST00000284268.6:c.1141+463A= (ANKH) ENSP00000284268.6:n.1141+463A=
ENST00000502585.1:n.383+463A= (ANKH)
NM_054027.4:c.1141+463A= (ANKH) NP_473368.1:n.1141+463A=
NR_046285.1:n.2492-179T=
NM_054027.5:c.1141+463A= (ANKH) NP_473368.1:n.1141+463A=
XM_011514151.2:c.*3568T= (OTULIN) XP_011512453.1:n.*3568T=
XM_017009644.2:c.1057+463A= (ANKH) XP_016865133.1:n.1057+463A=
NM_054027.6:c.1141+463A= (ANKH) MANE Select NP_473368.1:n.1141+463A=
Search 100 bp 5'
Search 100 bp 3'