Canonical Allele Identifier: CA2578273304
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741761A>C , CM000667.2:g.14741761A>C GRCh38
NC_000005.9:g.14741870A>C , CM000667.1:g.14741870A>C GRCh37
NC_000005.8:g.14794870A>C NCBI36
NG_008273.1:g.135018T>G
NG_008273.2:g.135025T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+66T>G MANE Select ENSP00000284268.6:n.1011+66T>G
ENST00000284268.6:c.1011+66T>G ENSP00000284268.6:n.1011+66T>G
ENST00000503939.5:n.523+66T>G
ENST00000515517.1:n.311T>G
NM_054027.4:c.1011+66T>G NP_473368.1:n.1011+66T>G
XM_011514067.1:c.1011+66T>G XP_011512369.1:n.1011+66T>G
NM_054027.5:c.1011+66T>G NP_473368.1:n.1011+66T>G
XM_017009644.2:c.927+66T>G XP_016865133.1:n.927+66T>G
NM_054027.6:c.1011+66T>G MANE Select NP_473368.1:n.1011+66T>G
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