Canonical Allele Identifier: CA443295585
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716858G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716749G>C , CM000667.2:g.14716749G>C GRCh38
NC_000005.9:g.14716858G>C , CM000667.1:g.14716858G>C GRCh37
NC_000005.8:g.14769858G>C NCBI36
NG_008273.1:g.160030C>G
NG_008273.2:g.160037C>G
NG_051625.1:g.60956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1098C>G MANE Select ENSP00000284268.6:p.Leu366=
ENST00000284268.6:c.1098C>G ENSP00000284268.6:p.Leu366=
ENST00000502585.1:n.340C>G
NM_054027.4:c.1098C>G NP_473368.1:p.Leu366=
NM_054027.5:c.1098C>G NP_473368.1:p.Leu366=
XM_017009644.2:c.1014C>G XP_016865133.1:p.Leu338=
NM_054027.6:c.1098C>G MANE Select NP_473368.1:p.Leu366=
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