Canonical Allele Identifier: CA10622988
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351417
ClinVar RCV Id: RCV000313752 RCV000336017
dbSNP Id: rs137905502
gnomAD v2: 5-14707062-A-T
gnomAD v3: 5-14706953-A-T
gnomAD v4: 5-14706953-A-T
MyVariant Identifiers: chr5:g.14707062A>T (hg19) chr5:g.14706953A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706953A>T , CM000667.2:g.14706953A>T GRCh38
NC_000005.9:g.14707062A>T , CM000667.1:g.14707062A>T GRCh37
NC_000005.8:g.14760062A>T NCBI36
NG_008273.1:g.169826T>A
NG_008273.2:g.169833T>A
NG_051625.1:g.51160A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4244T>A (ANKH) MANE Select ENSP00000284268.6:n.*4244T>A
ENST00000284268.6:c.*4244T>A (ANKH) ENSP00000284268.6:n.*4244T>A
NM_054027.4:c.*4244T>A (ANKH) NP_473368.1:n.*4244T>A
XM_011514151.1:c.*47-5769A>T (OTULIN) XP_011512453.1:n.*47-5769A>T
XM_011514152.1:c.*47-1985A>T (OTULIN) XP_011512454.1:n.*47-1985A>T
NM_054027.5:c.*4244T>A (ANKH) NP_473368.1:n.*4244T>A
XM_011514151.2:c.*47-5769A>T (OTULIN) XP_011512453.1:n.*47-5769A>T
XM_011514152.2:c.*47-1985A>T (OTULIN) XP_011512454.1:n.*47-1985A>T
NM_054027.6:c.*4244T>A (ANKH) MANE Select NP_473368.1:n.*4244T>A
Search 100 bp 5'
Search 100 bp 3'