Canonical Allele Identifier: CA557887337
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

gnomAD v2: 5-14716391-C-T
MyVariant Identifiers: chr5:g.14716391C>T (hg19) chr5:g.14716282C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716282C>T , CM000667.2:g.14716282C>T GRCh38
NC_000005.9:g.14716391C>T , CM000667.1:g.14716391C>T GRCh37
NC_000005.8:g.14769391C>T NCBI36
NG_008273.1:g.160497G>A
NG_008273.2:g.160504G>A
NG_051625.1:g.60489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+424G>A (ANKH) MANE Select ENSP00000284268.6:n.1141+424G>A
ENST00000284268.6:c.1141+424G>A (ANKH) ENSP00000284268.6:n.1141+424G>A
ENST00000502585.1:n.383+424G>A (ANKH)
NM_054027.4:c.1141+424G>A (ANKH) NP_473368.1:n.1141+424G>A
NR_046285.1:n.2492-140C>T
NM_054027.5:c.1141+424G>A (ANKH) NP_473368.1:n.1141+424G>A
XM_011514151.2:c.*3607C>T (OTULIN) XP_011512453.1:n.*3607C>T
XM_017009644.2:c.1057+424G>A (ANKH) XP_016865133.1:n.1057+424G>A
NM_054027.6:c.1141+424G>A (ANKH) MANE Select NP_473368.1:n.1141+424G>A
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