Canonical Allele Identifier: CA1528880534
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716249C= , CM000667.2:g.14716249C= GRCh38
NC_000005.9:g.14716358C= , CM000667.1:g.14716358C= GRCh37
NC_000005.8:g.14769358C= NCBI36
NG_008273.1:g.160530G=
NG_008273.2:g.160537G=
NG_051625.1:g.60456C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+457G= (ANKH) MANE Select ENSP00000284268.6:n.1141+457G=
ENST00000284268.6:c.1141+457G= (ANKH) ENSP00000284268.6:n.1141+457G=
ENST00000502585.1:n.383+457G= (ANKH)
NM_054027.4:c.1141+457G= (ANKH) NP_473368.1:n.1141+457G=
NR_046285.1:n.2492-173C=
NM_054027.5:c.1141+457G= (ANKH) NP_473368.1:n.1141+457G=
XM_011514151.2:c.*3574C= (OTULIN) XP_011512453.1:n.*3574C=
XM_017009644.2:c.1057+457G= (ANKH) XP_016865133.1:n.1057+457G=
NM_054027.6:c.1141+457G= (ANKH) MANE Select NP_473368.1:n.1141+457G=
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