Canonical Allele Identifier: CA2578273514
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871340-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871340G>T , CM000667.2:g.14871340G>T GRCh38
NC_000005.9:g.14871449G>T , CM000667.1:g.14871449G>T GRCh37
NC_000005.8:g.14924449G>T NCBI36
NG_008273.1:g.5439C>A
NG_008273.2:g.5446C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+12C>A MANE Select ENSP00000284268.6:n.96+12C>A
ENST00000284268.6:c.96+12C>A ENSP00000284268.6:n.96+12C>A
ENST00000505140.1:c.108C>A ENSP00000426332.1:p.Gly36=
ENST00000513115.1:n.121+12C>A
NM_054027.4:c.96+12C>A NP_473368.1:n.96+12C>A
XM_011514067.1:c.96+12C>A XP_011512369.1:n.96+12C>A
NM_054027.5:c.96+12C>A NP_473368.1:n.96+12C>A
NM_054027.6:c.96+12C>A MANE Select NP_473368.1:n.96+12C>A
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