Canonical Allele Identifier: CA2581471485
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706846G>C , CM000667.2:g.14706846G>C GRCh38
NC_000005.9:g.14706955G>C , CM000667.1:g.14706955G>C GRCh37
NC_000005.8:g.14759955G>C NCBI36
NG_008273.1:g.169933C>G
NG_008273.2:g.169940C>G
NG_051625.1:g.51053G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4351C>G (ANKH) MANE Select ENSP00000284268.6:n.*4351C>G
ENST00000284268.6:c.*4351C>G (ANKH) ENSP00000284268.6:n.*4351C>G
NM_054027.4:c.*4351C>G (ANKH) NP_473368.1:n.*4351C>G
XM_011514151.1:c.*47-5876G>C (OTULIN) XP_011512453.1:n.*47-5876G>C
XM_011514152.1:c.*47-2092G>C (OTULIN) XP_011512454.1:n.*47-2092G>C
NM_054027.5:c.*4351C>G (ANKH) NP_473368.1:n.*4351C>G
XM_011514151.2:c.*47-5876G>C (OTULIN) XP_011512453.1:n.*47-5876G>C
XM_011514152.2:c.*47-2092G>C (OTULIN) XP_011512454.1:n.*47-2092G>C
NM_054027.6:c.*4351C>G (ANKH) MANE Select NP_473368.1:n.*4351C>G
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