Canonical Allele Identifier: CA359286103
Gene: ANKH HGNC NCBI

Linked Data

COSMIC: COSM3852650
MyVariant Identifiers: chr5:g.14871519A>G (hg19) chr5:g.14871410A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871410A>G , CM000667.2:g.14871410A>G GRCh38
NC_000005.9:g.14871519A>G , CM000667.1:g.14871519A>G GRCh37
NC_000005.8:g.14924519A>G NCBI36
NG_008273.1:g.5369T>C
NG_008273.2:g.5376T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.38T>C MANE Select ENSP00000284268.6:p.Leu13Pro
ENST00000284268.6:c.38T>C ENSP00000284268.6:p.Leu13Pro
ENST00000505140.1:c.38T>C ENSP00000426332.1:p.Leu13Pro
ENST00000513115.1:n.63T>C
NM_054027.4:c.38T>C NP_473368.1:p.Leu13Pro
XM_011514067.1:c.38T>C XP_011512369.1:p.Leu13Pro
NM_054027.5:c.38T>C NP_473368.1:p.Leu13Pro
NM_054027.6:c.38T>C MANE Select NP_473368.1:p.Leu13Pro
Search 100 bp 5'
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