Canonical Allele Identifier: CA2673308107
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

gnomAD v4: 5-14706874-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706874G>A , CM000667.2:g.14706874G>A GRCh38
NC_000005.9:g.14706983G>A , CM000667.1:g.14706983G>A GRCh37
NC_000005.8:g.14759983G>A NCBI36
NG_008273.1:g.169905C>T
NG_008273.2:g.169912C>T
NG_051625.1:g.51081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4323C>T (ANKH) MANE Select ENSP00000284268.6:n.*4323C>T
ENST00000284268.6:c.*4323C>T (ANKH) ENSP00000284268.6:n.*4323C>T
NM_054027.4:c.*4323C>T (ANKH) NP_473368.1:n.*4323C>T
XM_011514151.1:c.*47-5848G>A (OTULIN) XP_011512453.1:n.*47-5848G>A
XM_011514152.1:c.*47-2064G>A (OTULIN) XP_011512454.1:n.*47-2064G>A
NM_054027.5:c.*4323C>T (ANKH) NP_473368.1:n.*4323C>T
XM_011514151.2:c.*47-5848G>A (OTULIN) XP_011512453.1:n.*47-5848G>A
XM_011514152.2:c.*47-2064G>A (OTULIN) XP_011512454.1:n.*47-2064G>A
NM_054027.6:c.*4323C>T (ANKH) MANE Select NP_473368.1:n.*4323C>T
Search 100 bp 5'
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