Canonical Allele Identifier: CA10620439
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351393
ClinVar RCV Id: RCV000330144 RCV000386964 RCV003430900
dbSNP Id: rs576051028
gnomAD v2: 5-14705294-A-G
gnomAD v3: 5-14705185-A-G
gnomAD v4: 5-14705185-A-G
MyVariant Identifiers: chr5:g.14705294A>G (hg19) chr5:g.14705185A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14705185A>G , CM000667.2:g.14705185A>G GRCh38
NC_000005.9:g.14705294A>G , CM000667.1:g.14705294A>G GRCh37
NC_000005.8:g.14758294A>G NCBI36
NG_008273.1:g.171594T>C
NG_008273.2:g.171601T>C
NG_051625.1:g.49392A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*6012T>C (ANKH) MANE Select ENSP00000284268.6:n.*6012T>C
ENST00000284268.6:c.*6012T>C (ANKH) ENSP00000284268.6:n.*6012T>C
NM_054027.4:c.*6012T>C (ANKH) NP_473368.1:n.*6012T>C
XM_011514151.1:c.*47-7537A>G (OTULIN) XP_011512453.1:n.*47-7537A>G
XM_011514152.1:c.*47-3753A>G (OTULIN) XP_011512454.1:n.*47-3753A>G
NM_054027.5:c.*6012T>C (ANKH) NP_473368.1:n.*6012T>C
XM_011514151.2:c.*47-7537A>G (OTULIN) XP_011512453.1:n.*47-7537A>G
XM_011514152.2:c.*47-3753A>G (OTULIN) XP_011512454.1:n.*47-3753A>G
NM_054027.6:c.*6012T>C (ANKH) MANE Select NP_473368.1:n.*6012T>C
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