Canonical Allele Identifier: CA2553564270
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871667C>G , CM000667.2:g.14871667C>G GRCh38
NC_000005.9:g.14871776C>G , CM000667.1:g.14871776C>G GRCh37
NC_000005.8:g.14924776C>G NCBI36
NG_008273.1:g.5112G>C
NG_008273.2:g.5119G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-220G>C MANE Select ENSP00000284268.6:n.-220G>C
ENST00000284268.6:c.-220G>C ENSP00000284268.6:n.-220G>C
ENST00000505140.1:c.-220G>C ENSP00000426332.1:n.-220G>C
NM_054027.4:c.-220G>C NP_473368.1:n.-220G>C
XM_011514067.1:c.-220G>C XP_011512369.1:n.-220G>C
NM_054027.5:c.-220G>C NP_473368.1:n.-220G>C
NM_054027.6:c.-220G>C MANE Select NP_473368.1:n.-220G>C
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