Canonical Allele Identifier: CA1528880555
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716304A= , CM000667.2:g.14716304A= GRCh38
NC_000005.9:g.14716413A= , CM000667.1:g.14716413A= GRCh37
NC_000005.8:g.14769413A= NCBI36
NG_008273.1:g.160475T=
NG_008273.2:g.160482T=
NG_051625.1:g.60511A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+402T= (ANKH) MANE Select ENSP00000284268.6:n.1141+402T=
ENST00000284268.6:c.1141+402T= (ANKH) ENSP00000284268.6:n.1141+402T=
ENST00000502585.1:n.383+402T= (ANKH)
NM_054027.4:c.1141+402T= (ANKH) NP_473368.1:n.1141+402T=
NR_046285.1:n.2492-118A=
NM_054027.5:c.1141+402T= (ANKH) NP_473368.1:n.1141+402T=
XM_011514151.2:c.*3629A= (OTULIN) XP_011512453.1:n.*3629A=
XM_017009644.2:c.1057+402T= (ANKH) XP_016865133.1:n.1057+402T=
NM_054027.6:c.1141+402T= (ANKH) MANE Select NP_473368.1:n.1141+402T=
Search 100 bp 5'
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