Canonical Allele Identifier: CA359245455
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716919G>C (hg19) chr5:g.14716810G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716810G>C , CM000667.2:g.14716810G>C GRCh38
NC_000005.9:g.14716919G>C , CM000667.1:g.14716919G>C GRCh37
NC_000005.8:g.14769919G>C NCBI36
NG_008273.1:g.159969C>G
NG_008273.2:g.159976C>G
NG_051625.1:g.61017G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1037C>G MANE Select ENSP00000284268.6:p.Pro346Arg
ENST00000284268.6:c.1037C>G ENSP00000284268.6:p.Pro346Arg
ENST00000502585.1:n.279C>G
NM_054027.4:c.1037C>G NP_473368.1:p.Pro346Arg
NM_054027.5:c.1037C>G NP_473368.1:p.Pro346Arg
XM_017009644.2:c.953C>G XP_016865133.1:p.Pro318Arg
NM_054027.6:c.1037C>G MANE Select NP_473368.1:p.Pro346Arg
Search 100 bp 5'
Search 100 bp 3'