Canonical Allele Identifier: CA2578273250
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716648A>G , CM000667.2:g.14716648A>G GRCh38
NC_000005.9:g.14716757A>G , CM000667.1:g.14716757A>G GRCh37
NC_000005.8:g.14769757A>G NCBI36
NG_008273.1:g.160131T>C
NG_008273.2:g.160138T>C
NG_051625.1:g.60855A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1141+58T>C MANE Select ENSP00000284268.6:n.1141+58T>C
ENST00000284268.6:c.1141+58T>C ENSP00000284268.6:n.1141+58T>C
ENST00000502585.1:n.383+58T>C
NM_054027.4:c.1141+58T>C NP_473368.1:n.1141+58T>C
NM_054027.5:c.1141+58T>C NP_473368.1:n.1141+58T>C
XM_017009644.2:c.1057+58T>C XP_016865133.1:n.1057+58T>C
NM_054027.6:c.1141+58T>C MANE Select NP_473368.1:n.1141+58T>C
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