Canonical Allele Identifier: CA1528875593
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706970G= , CM000667.2:g.14706970G= GRCh38
NC_000005.9:g.14707079G= , CM000667.1:g.14707079G= GRCh37
NC_000005.8:g.14760079G= NCBI36
NG_008273.1:g.169809C=
NG_008273.2:g.169816C=
NG_051625.1:g.51177G=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4227C= (ANKH) MANE Select ENSP00000284268.6:n.*4227C=
ENST00000284268.6:c.*4227C= (ANKH) ENSP00000284268.6:n.*4227C=
NM_054027.4:c.*4227C= (ANKH) NP_473368.1:n.*4227C=
XM_011514151.1:c.*47-5752G= (OTULIN) XP_011512453.1:n.*47-5752G=
XM_011514152.1:c.*47-1968G= (OTULIN) XP_011512454.1:n.*47-1968G=
NM_054027.5:c.*4227C= (ANKH) NP_473368.1:n.*4227C=
XM_011514151.2:c.*47-5752G= (OTULIN) XP_011512453.1:n.*47-5752G=
XM_011514152.2:c.*47-1968G= (OTULIN) XP_011512454.1:n.*47-1968G=
NM_054027.6:c.*4227C= (ANKH) MANE Select NP_473368.1:n.*4227C=
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