Canonical Allele Identifier: CA2673314659
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871345-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871345G>T , CM000667.2:g.14871345G>T GRCh38
NC_000005.9:g.14871454G>T , CM000667.1:g.14871454G>T GRCh37
NC_000005.8:g.14924454G>T NCBI36
NG_008273.1:g.5434C>A
NG_008273.2:g.5441C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.96+7C>A MANE Select ENSP00000284268.6:n.96+7C>A
ENST00000284268.6:c.96+7C>A ENSP00000284268.6:n.96+7C>A
ENST00000505140.1:c.103C>A ENSP00000426332.1:p.Pro35Thr
ENST00000513115.1:n.121+7C>A
NM_054027.4:c.96+7C>A NP_473368.1:n.96+7C>A
XM_011514067.1:c.96+7C>A XP_011512369.1:n.96+7C>A
NM_054027.5:c.96+7C>A NP_473368.1:n.96+7C>A
NM_054027.6:c.96+7C>A MANE Select NP_473368.1:n.96+7C>A
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