Canonical Allele Identifier: CA10623161
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351442
ClinVar RCV Id: RCV000265678 RCV000355762 RCV003430902
dbSNP Id: rs569690245
gnomAD v2: 5-14708607-C-G
gnomAD v3: 5-14708498-C-G
gnomAD v4: 5-14708498-C-G
MyVariant Identifiers: chr5:g.14708607C>G (hg19) chr5:g.14708498C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14708498C>G , CM000667.2:g.14708498C>G GRCh38
NC_000005.9:g.14708607C>G , CM000667.1:g.14708607C>G GRCh37
NC_000005.8:g.14761607C>G NCBI36
NG_008273.1:g.168281G>C
NG_008273.2:g.168288G>C
NG_051625.1:g.52705C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*2699G>C (ANKH) MANE Select ENSP00000284268.6:n.*2699G>C
ENST00000284268.6:c.*2699G>C (ANKH) ENSP00000284268.6:n.*2699G>C
NM_054027.4:c.*2699G>C (ANKH) NP_473368.1:n.*2699G>C
XM_011514151.1:c.*47-4224C>G (OTULIN) XP_011512453.1:n.*47-4224C>G
XM_011514152.1:c.*47-440C>G (OTULIN) XP_011512454.1:n.*47-440C>G
NM_054027.5:c.*2699G>C (ANKH) NP_473368.1:n.*2699G>C
XM_011514151.2:c.*47-4224C>G (OTULIN) XP_011512453.1:n.*47-4224C>G
XM_011514152.2:c.*47-440C>G (OTULIN) XP_011512454.1:n.*47-440C>G
NM_054027.6:c.*2699G>C (ANKH) MANE Select NP_473368.1:n.*2699G>C
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