Canonical Allele Identifier: CA359286083
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871509G>C (hg19) chr5:g.14871400G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871400G>C , CM000667.2:g.14871400G>C GRCh38
NC_000005.9:g.14871509G>C , CM000667.1:g.14871509G>C GRCh37
NC_000005.8:g.14924509G>C NCBI36
NG_008273.1:g.5379C>G
NG_008273.2:g.5386C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.48C>G MANE Select ENSP00000284268.6:p.Phe16Leu
ENST00000284268.6:c.48C>G ENSP00000284268.6:p.Phe16Leu
ENST00000505140.1:c.48C>G ENSP00000426332.1:p.Phe16Leu
ENST00000513115.1:n.73C>G
NM_054027.4:c.48C>G NP_473368.1:p.Phe16Leu
XM_011514067.1:c.48C>G XP_011512369.1:p.Phe16Leu
NM_054027.5:c.48C>G NP_473368.1:p.Phe16Leu
NM_054027.6:c.48C>G MANE Select NP_473368.1:p.Phe16Leu
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