Canonical Allele Identifier: CA2765371449
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716917T>G , CM000667.2:g.14716917T>G GRCh38
NC_000005.9:g.14717026T>G , CM000667.1:g.14717026T>G GRCh37
NC_000005.8:g.14770026T>G NCBI36
NG_008273.1:g.159862A>C
NG_008273.2:g.159869A>C
NG_051625.1:g.61124T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-82A>C MANE Select ENSP00000284268.6:n.1012-82A>C
ENST00000284268.6:c.1012-82A>C ENSP00000284268.6:n.1012-82A>C
ENST00000502585.1:n.172A>C
NM_054027.4:c.1012-82A>C NP_473368.1:n.1012-82A>C
NM_054027.5:c.1012-82A>C NP_473368.1:n.1012-82A>C
XM_017009644.2:c.928-82A>C XP_016865133.1:n.928-82A>C
NM_054027.6:c.1012-82A>C MANE Select NP_473368.1:n.1012-82A>C
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