Canonical Allele Identifier: CA2578273257
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716892A>C , CM000667.2:g.14716892A>C GRCh38
NC_000005.9:g.14717001A>C , CM000667.1:g.14717001A>C GRCh37
NC_000005.8:g.14770001A>C NCBI36
NG_008273.1:g.159887T>G
NG_008273.2:g.159894T>G
NG_051625.1:g.61099A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-57T>G MANE Select ENSP00000284268.6:n.1012-57T>G
ENST00000284268.6:c.1012-57T>G ENSP00000284268.6:n.1012-57T>G
ENST00000502585.1:n.197T>G
NM_054027.4:c.1012-57T>G NP_473368.1:n.1012-57T>G
NM_054027.5:c.1012-57T>G NP_473368.1:n.1012-57T>G
XM_017009644.2:c.928-57T>G XP_016865133.1:n.928-57T>G
NM_054027.6:c.1012-57T>G MANE Select NP_473368.1:n.1012-57T>G
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