Canonical Allele Identifier: CA805426475
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs371012506
gnomAD v4: 5-14871477-A-C
MyVariant Identifiers: chr5:g.14871586A>C (hg19) chr5:g.14871477A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871477A>C , CM000667.2:g.14871477A>C GRCh38
NC_000005.9:g.14871586A>C , CM000667.1:g.14871586A>C GRCh37
NC_000005.8:g.14924586A>C NCBI36
NG_008273.1:g.5302T>G
NG_008273.2:g.5309T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.-30T>G MANE Select ENSP00000284268.6:n.-30T>G
ENST00000284268.6:c.-30T>G ENSP00000284268.6:n.-30T>G
ENST00000505140.1:c.-30T>G ENSP00000426332.1:n.-30T>G
NM_054027.4:c.-30T>G NP_473368.1:n.-30T>G
XM_011514067.1:c.-30T>G XP_011512369.1:n.-30T>G
NM_054027.5:c.-30T>G NP_473368.1:n.-30T>G
NM_054027.6:c.-30T>G MANE Select NP_473368.1:n.-30T>G
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